DOI: 10.1016/j.spen.2008.05.008. Mitochondrial Fatty-Acid Oxidation Disorders

Mitochondrial Fatty-Acid Oxidation Disorders

10.1016/j.spen.2008.05.008

Crossref journal-article

Elsevier BV

Seminars in Pediatric Neurology (78)

Bibliography

Kompare, M., & Rizzo, W. B. (2008). Mitochondrial Fatty-Acid Oxidation Disorders. Seminars in Pediatric Neurology, 15(3), 140â149.

Authors 2

Michelle Kompare (first)
William B. Rizzo (additional)

References 51 Referenced 130

{'key': '10.1016/j.spen.2008.05.008_bib1', 'series-title': 'The Metabolic & Molecular Bases of Inherited Disease', 'first-page': '2297', 'article-title': 'Mitochondrial fatty acid disorders, in', 'author': 'Roe', 'year': '2001'} / The Metabolic & Molecular Bases of Inherited Disease / Mitochondrial fatty acid disorders, in by Roe (2001)
10.1373/clinchem.2003.022178 / Clin Chem / Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns by Chace (2003)
{'key': '10.1016/j.spen.2008.05.008_bib3', 'series-title': 'The Metabolic & Molecular Bases of Inherited Disease', 'first-page': '3219', 'article-title': 'Single peroxisomal enzyme deficiencies, in', 'author': 'Wanders', 'year': '2001'} / The Metabolic & Molecular Bases of Inherited Disease / Single peroxisomal enzyme deficiencies, in by Wanders (2001)
10.1046/j.1432-1033.2003.03952.x / Eur J Biochem / β-oxidation of fatty acids by Ghisla (2004)
10.1196/annals.1320.001 / Ann N Y Acad Sci / The role of the carnitine system in human metabolism by Foster (2004)
10.1196/annals.1320.004 / Ann N Y Acad Sci / Carnitine deficiency disorders in children by Stanley (2004)
10.1086/519219 / Am J Hum Genet / A new genetic disorder in mitochondrial fatty acid β-oxidation: ACAD9 deficiency by He (2007)
10.2174/1568008053174796 / Curr Drug Targets Immune Endocr Metabol Disord / Mitochondrial trifunctional protein defects: Molecular basis and novel therapeutic approaches by Angdisen (2005)
10.1203/01.PDR.0000159631.63843.3E / Pediatr Res / Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: Impact of expanded newborn screening on their diagnosis and management by Shekhawat (2005)
10.1002/ajmg.c.30087 / Am J Med Genet Part C / Disorders of carnitine transport and the carnitine cycle by Longo (2006)
10.1016/S0022-3476(95)70160-5 / J Pediatr / Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase by Ogier de Baulney (1995)
10.1097/01.LAB.0000098428.51765.83 / Lab Invest / Carnitine palmitoyltransferase II deficiency: A clinical, biochemical, and molecular review by Sigauke (2003)
10.1001/archneur.62.1.37 / Arch Neurol / Muscle carnitine palmitoyltransferase II deficiency by Deschauer (2005)
10.1016/j.mam.2004.06.004 / Mol Aspects Med / Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects by Bonnefont (2004)
10.1210/jc.2004-1936 / J Clin Endocrinol Metab / Peroxisome proliferators activated receptor δ (PPAR δ) agonist but not PPARα corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells by Djouadi (2005)
10.1016/j.amjmed.2005.07.064 / Am J Med / Rhabdomyolysis caused by an inherited metabolic disease: Very long-chain acyl-CoA dehydrogenase deficiency by Voermans (2006)
10.1007/PL00008368 / Eur J Pediatr / Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year old Japanese boy by Doi (2000)
10.7205/MILMED.171.7.657 / Mil Med / Rhabdomyolysis in the military: Recognizing late-onset very long-chain acyl CoA dehydrogenase deficiency by Hoffman (2006)
10.1542/peds.2006-0666 / Pediatrics / Neonatal screening for very long-chain acyl-CoA dehydrogenase deficiency: Enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels by Liebig (2006)
10.1203/PDR.0b013e31816ff6f0 / Pediatr Res / Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine by Primassin (2008)
10.1097/01.gim.0000204472.25153.8d / Genet Med / The epidemiology of medium-chain acyl-CoA dehydrogenase deficiency: An update by Grosse (2006)
10.1016/S0140-6736(07)60029-4 / Lancet / Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study by Wilcken (2007)
10.1016/j.jpeds.2005.12.028 / J Pediatr / The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome by Derks (2006)
10.1093/clinchem/43.11.2106 / Clin Chem / Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry by Chace (1997)
10.1136/adc.80.5.459 / Arch Dis Child / Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis by Wilson (1999)
10.1001/jama.296.8.943 / JAMA / Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency by van Maldegem (2006)
10.1542/peds.112.5.1152 / Pediatrics / Short-chain acyl-CoA dehydrogenase deficiency: Studies in a large family adding to the complexity of the disorder by Bok (2003)
10.1016/S0022-3476(95)70207-5 / J Pediatr / Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency by Bhala (1995)
10.1172/JCI112953 / J Clin Invest / Short-chain acyl-coenzyme A dehydrogenase deficiency by Amendt (1987)
10.1016/S0022-3476(95)70505-8 / J Pediatr / Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency by Dawson (1995)
10.1111/j.1742-4658.2005.04911.x / FEBS J / 3-Hydroxyacyl-coA dehydrogenase and short chain 3-hydroxyacyl-coA dehydrogenase in human health and disease by Yang (2005)
10.1172/JCI200111294 / J Clin Invest / Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion by Clayton (2001)
10.1203/00006450-199601000-00031 / Pediatr Res / Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A new defect of fatty acid oxidation by Bennett (1996)
10.1038/ncpendmet0368 / Nat Clin Pract Endocrinol Metab / Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates by De León (2007)
10.1111/j.1651-2227.1999.tb01089.x / Acta Paediatr / Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Tyni (1999)
10.1542/peds.109.1.99 / Pediatrics / Heymans SA, Wijburg FA by den Boer (2002)
10.1097/01.LAB.0000021175.50201.46 / Lab Invest / Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A molecular and biochemical review by Rakheja (2002)
10.1203/01.PDR.0000141967.52759.83 / Pediatr Res / Mitochondrial fatty acid β-oxidation in the human eye and brain: Implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Tyni (2004)
10.1203/01.PDR.0000161413.42874.74 / Pediatr Res / Long-chain fatty acid oxidation during early human development by Oey (2005)
10.1016/S0022-3476(97)70312-3 / J Pediatr / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients by Tyni (1997)
10.1136/adc.85.6.487 / Arch Dis Child / Feeding difficulties in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency by Lund (2001)
10.1212/WNL.52.3.640 / Neurology / Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: Response t cod liver oil by Tein (1999)
10.1172/JCI115983 / J Clin Invest / Combined enzyme defect of mitochondrial fatty acid oxidation by Jackson (1992)
10.1016/0006-291X(92)91350-Y / Biochem Biophys Res Commun / Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidation by Wanders (1992)
10.1002/mus.10500 / Muscle Nerve / Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein by Spiekerkoetter (2004)
10.1067/mpd.2003.231 / J Pediatr / Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement by Den Boer (2003)
10.1046/j.1442-200x.2004.01861.x / Pediatr Int / Mitochondrial trifunctional protein deficiency in a lethal neonate by Yamazaki (2004)
10.1007/s00431-002-1035-4 / Eur J Pediatr / Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome by Schwab (2003)
10.1373/clinchem.2005.062000 / Clin Chem / Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene by Das (2006)
10.1016/j.abb.2004.10.018 / Arch Biochem Biophys / Studies of human mitochondrial 2,4-dienoyl-CoA reductase by Yu (2005)
10.1172/JCI114624 / J Clin Invest / 2,4-Dienoyl-coenzyme A reductase deficiency: A possible new disorder of fatty acid oxidation by Roe (1990)

Dates

Type	When
Created	17 years ago (Aug. 16, 2008, 12:38 p.m.)
Deposited	5 years, 3 months ago (May 7, 2020, 3:23 p.m.)
Indexed	1 week, 3 days ago (Aug. 23, 2025, 9:17 p.m.)
Issued	17 years ago (Sept. 1, 2008)
Published	17 years ago (Sept. 1, 2008)
Published Print	17 years ago (Sept. 1, 2008)

Funders 0

None

BibTeX

@article{Kompare_2008, title={Mitochondrial Fatty-Acid Oxidation Disorders}, volume={15}, ISSN={1071-9091}, url={http://dx.doi.org/10.1016/j.spen.2008.05.008}, DOI={10.1016/j.spen.2008.05.008}, number={3}, journal={Seminars in Pediatric Neurology}, publisher={Elsevier BV}, author={Kompare, Michelle and Rizzo, William B.}, year={2008}, month=sep, pages={140–149} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        8,
        24
      ]
    ],
    "date-time": "2025-08-24T01:17:28Z",
    "timestamp": 1755998248334
  },
  "reference-count": 51,
  "publisher": "Elsevier BV",
  "issue": "3",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2008,
            9,
            1
          ]
        ],
        "date-time": "2008-09-01T00:00:00Z",
        "timestamp": 1220227200000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://www.elsevier.com/tdm/userlicense/1.0/"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2008,
        9
      ]
    ]
  },
  "DOI": "10.1016/j.spen.2008.05.008",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2008,
        8,
        16
      ]
    ],
    "date-time": "2008-08-16T16:38:18Z",
    "timestamp": 1218904698000
  },
  "page": "140-149",
  "source": "Crossref",
  "is-referenced-by-count": 130,
  "title": "Mitochondrial Fatty-Acid Oxidation Disorders",
  "prefix": "10.1016",
  "volume": "15",
  "author": [
    {
      "given": "Michelle",
      "family": "Kompare",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "William B.",
      "family": "Rizzo",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "78",
  "reference": [
    {
      "key": "10.1016/j.spen.2008.05.008_bib1",
      "series-title": "The Metabolic & Molecular Bases of Inherited Disease",
      "first-page": "2297",
      "article-title": "Mitochondrial fatty acid disorders, in",
      "author": "Roe",
      "year": "2001"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib2",
      "doi-asserted-by": "crossref",
      "first-page": "1797",
      "DOI": "10.1373/clinchem.2003.022178",
      "article-title": "Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns",
      "volume": "49",
      "author": "Chace",
      "year": "2003",
      "journal-title": "Clin Chem"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib3",
      "series-title": "The Metabolic & Molecular Bases of Inherited Disease",
      "first-page": "3219",
      "article-title": "Single peroxisomal enzyme deficiencies, in",
      "author": "Wanders",
      "year": "2001"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib4",
      "doi-asserted-by": "crossref",
      "first-page": "459",
      "DOI": "10.1046/j.1432-1033.2003.03952.x",
      "article-title": "\u03b2-oxidation of fatty acids",
      "volume": "271",
      "author": "Ghisla",
      "year": "2004",
      "journal-title": "Eur J Biochem"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib5",
      "doi-asserted-by": "crossref",
      "first-page": "1",
      "DOI": "10.1196/annals.1320.001",
      "article-title": "The role of the carnitine system in human metabolism",
      "volume": "1033",
      "author": "Foster",
      "year": "2004",
      "journal-title": "Ann N Y Acad Sci"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib6",
      "doi-asserted-by": "crossref",
      "first-page": "42",
      "DOI": "10.1196/annals.1320.004",
      "article-title": "Carnitine deficiency disorders in children",
      "volume": "1033",
      "author": "Stanley",
      "year": "2004",
      "journal-title": "Ann N Y Acad Sci"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib7",
      "doi-asserted-by": "crossref",
      "first-page": "87",
      "DOI": "10.1086/519219",
      "article-title": "A new genetic disorder in mitochondrial fatty acid \u03b2-oxidation: ACAD9 deficiency",
      "volume": "81",
      "author": "He",
      "year": "2007",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib8",
      "doi-asserted-by": "crossref",
      "first-page": "27",
      "DOI": "10.2174/1568008053174796",
      "article-title": "Mitochondrial trifunctional protein defects: Molecular basis and novel therapeutic approaches",
      "volume": "5",
      "author": "Angdisen",
      "year": "2005",
      "journal-title": "Curr Drug Targets Immune Endocr Metabol Disord"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib9",
      "doi-asserted-by": "crossref",
      "first-page": "78R",
      "DOI": "10.1203/01.PDR.0000159631.63843.3E",
      "article-title": "Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: Impact of expanded newborn screening on their diagnosis and management",
      "volume": "57",
      "author": "Shekhawat",
      "year": "2005",
      "journal-title": "Pediatr Res"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib10",
      "doi-asserted-by": "crossref",
      "first-page": "77",
      "DOI": "10.1002/ajmg.c.30087",
      "article-title": "Disorders of carnitine transport and the carnitine cycle",
      "volume": "142C",
      "author": "Longo",
      "year": "2006",
      "journal-title": "Am J Med Genet Part C"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib11",
      "doi-asserted-by": "crossref",
      "first-page": "723",
      "DOI": "10.1016/S0022-3476(95)70160-5",
      "article-title": "Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase",
      "volume": "127",
      "author": "Ogier de Baulney",
      "year": "1995",
      "journal-title": "J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib12",
      "doi-asserted-by": "crossref",
      "first-page": "1543",
      "DOI": "10.1097/01.LAB.0000098428.51765.83",
      "article-title": "Carnitine palmitoyltransferase II deficiency: A clinical, biochemical, and molecular review",
      "volume": "83",
      "author": "Sigauke",
      "year": "2003",
      "journal-title": "Lab Invest"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib13",
      "doi-asserted-by": "crossref",
      "first-page": "37",
      "DOI": "10.1001/archneur.62.1.37",
      "article-title": "Muscle carnitine palmitoyltransferase II deficiency",
      "volume": "62",
      "author": "Deschauer",
      "year": "2005",
      "journal-title": "Arch Neurol"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib14",
      "doi-asserted-by": "crossref",
      "first-page": "495",
      "DOI": "10.1016/j.mam.2004.06.004",
      "article-title": "Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects",
      "volume": "25",
      "author": "Bonnefont",
      "year": "2004",
      "journal-title": "Mol Aspects Med"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib15",
      "doi-asserted-by": "crossref",
      "first-page": "1791",
      "DOI": "10.1210/jc.2004-1936",
      "article-title": "Peroxisome proliferators activated receptor \u03b4 (PPAR \u03b4) agonist but not PPAR\u03b1 corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells",
      "volume": "90",
      "author": "Djouadi",
      "year": "2005",
      "journal-title": "J Clin Endocrinol Metab"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib16",
      "doi-asserted-by": "crossref",
      "first-page": "176",
      "DOI": "10.1016/j.amjmed.2005.07.064",
      "article-title": "Rhabdomyolysis caused by an inherited metabolic disease: Very long-chain acyl-CoA dehydrogenase deficiency",
      "volume": "119",
      "author": "Voermans",
      "year": "2006",
      "journal-title": "Am J Med"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib17",
      "doi-asserted-by": "crossref",
      "first-page": "9908",
      "DOI": "10.1007/PL00008368",
      "article-title": "Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year old Japanese boy",
      "volume": "159",
      "author": "Doi",
      "year": "2000",
      "journal-title": "Eur J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib18",
      "doi-asserted-by": "crossref",
      "first-page": "657",
      "DOI": "10.7205/MILMED.171.7.657",
      "article-title": "Rhabdomyolysis in the military: Recognizing late-onset very long-chain acyl CoA dehydrogenase deficiency",
      "volume": "171",
      "author": "Hoffman",
      "year": "2006",
      "journal-title": "Mil Med"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib19",
      "doi-asserted-by": "crossref",
      "first-page": "1065",
      "DOI": "10.1542/peds.2006-0666",
      "article-title": "Neonatal screening for very long-chain acyl-CoA dehydrogenase deficiency: Enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels",
      "volume": "118",
      "author": "Liebig",
      "year": "2006",
      "journal-title": "Pediatrics"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib20",
      "doi-asserted-by": "crossref",
      "first-page": "632",
      "DOI": "10.1203/PDR.0b013e31816ff6f0",
      "article-title": "Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine",
      "volume": "63",
      "author": "Primassin",
      "year": "2008",
      "journal-title": "Pediatr Res"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib21",
      "doi-asserted-by": "crossref",
      "first-page": "205",
      "DOI": "10.1097/01.gim.0000204472.25153.8d",
      "article-title": "The epidemiology of medium-chain acyl-CoA dehydrogenase deficiency: An update",
      "volume": "8",
      "author": "Grosse",
      "year": "2006",
      "journal-title": "Genet Med"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib22",
      "doi-asserted-by": "crossref",
      "first-page": "37",
      "DOI": "10.1016/S0140-6736(07)60029-4",
      "article-title": "Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study",
      "volume": "369",
      "author": "Wilcken",
      "year": "2007",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib23",
      "doi-asserted-by": "crossref",
      "first-page": "665",
      "DOI": "10.1016/j.jpeds.2005.12.028",
      "article-title": "The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome",
      "volume": "148",
      "author": "Derks",
      "year": "2006",
      "journal-title": "J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib24",
      "doi-asserted-by": "crossref",
      "first-page": "2106",
      "DOI": "10.1093/clinchem/43.11.2106",
      "article-title": "Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry",
      "volume": "43",
      "author": "Chace",
      "year": "1997",
      "journal-title": "Clin Chem"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib25",
      "doi-asserted-by": "crossref",
      "first-page": "459",
      "DOI": "10.1136/adc.80.5.459",
      "article-title": "Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis",
      "volume": "80",
      "author": "Wilson",
      "year": "1999",
      "journal-title": "Arch Dis Child"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib26",
      "doi-asserted-by": "crossref",
      "first-page": "943",
      "DOI": "10.1001/jama.296.8.943",
      "article-title": "Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency",
      "volume": "296",
      "author": "van Maldegem",
      "year": "2006",
      "journal-title": "JAMA"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib27",
      "doi-asserted-by": "crossref",
      "first-page": "1152",
      "DOI": "10.1542/peds.112.5.1152",
      "article-title": "Short-chain acyl-CoA dehydrogenase deficiency: Studies in a large family adding to the complexity of the disorder",
      "volume": "112",
      "author": "Bok",
      "year": "2003",
      "journal-title": "Pediatrics"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib28",
      "doi-asserted-by": "crossref",
      "first-page": "910",
      "DOI": "10.1016/S0022-3476(95)70207-5",
      "article-title": "Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency",
      "volume": "126",
      "author": "Bhala",
      "year": "1995",
      "journal-title": "J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib29",
      "doi-asserted-by": "crossref",
      "first-page": "1303",
      "DOI": "10.1172/JCI112953",
      "article-title": "Short-chain acyl-coenzyme A dehydrogenase deficiency",
      "volume": "79",
      "author": "Amendt",
      "year": "1987",
      "journal-title": "J Clin Invest"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib30",
      "doi-asserted-by": "crossref",
      "first-page": "69",
      "DOI": "10.1016/S0022-3476(95)70505-8",
      "article-title": "Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency",
      "volume": "126",
      "author": "Dawson",
      "year": "1995",
      "journal-title": "J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib31",
      "doi-asserted-by": "crossref",
      "first-page": "4874",
      "DOI": "10.1111/j.1742-4658.2005.04911.x",
      "article-title": "3-Hydroxyacyl-coA dehydrogenase and short chain 3-hydroxyacyl-coA dehydrogenase in human health and disease",
      "volume": "272",
      "author": "Yang",
      "year": "2005",
      "journal-title": "FEBS J"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib32",
      "doi-asserted-by": "crossref",
      "first-page": "457",
      "DOI": "10.1172/JCI200111294",
      "article-title": "Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of \u03b2-oxidation in insulin secretion",
      "volume": "108",
      "author": "Clayton",
      "year": "2001",
      "journal-title": "J Clin Invest"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib33",
      "doi-asserted-by": "crossref",
      "first-page": "185",
      "DOI": "10.1203/00006450-199601000-00031",
      "article-title": "Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A new defect of fatty acid oxidation",
      "volume": "39",
      "author": "Bennett",
      "year": "1996",
      "journal-title": "Pediatr Res"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib34",
      "doi-asserted-by": "crossref",
      "first-page": "57",
      "DOI": "10.1038/ncpendmet0368",
      "article-title": "Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates",
      "volume": "3",
      "author": "De Le\u00f3n",
      "year": "2007",
      "journal-title": "Nat Clin Pract Endocrinol Metab"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib35",
      "doi-asserted-by": "crossref",
      "first-page": "237",
      "DOI": "10.1111/j.1651-2227.1999.tb01089.x",
      "article-title": "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
      "volume": "88",
      "author": "Tyni",
      "year": "1999",
      "journal-title": "Acta Paediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib36",
      "doi-asserted-by": "crossref",
      "first-page": "99",
      "DOI": "10.1542/peds.109.1.99",
      "article-title": "Heymans SA, Wijburg FA",
      "volume": "109",
      "author": "den Boer",
      "year": "2002",
      "journal-title": "Pediatrics"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib37",
      "doi-asserted-by": "crossref",
      "first-page": "815",
      "DOI": "10.1097/01.LAB.0000021175.50201.46",
      "article-title": "Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A molecular and biochemical review",
      "volume": "82",
      "author": "Rakheja",
      "year": "2002",
      "journal-title": "Lab Invest"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib38",
      "doi-asserted-by": "crossref",
      "first-page": "744",
      "DOI": "10.1203/01.PDR.0000141967.52759.83",
      "article-title": "Mitochondrial fatty acid \u03b2-oxidation in the human eye and brain: Implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
      "volume": "56",
      "author": "Tyni",
      "year": "2004",
      "journal-title": "Pediatr Res"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib39",
      "doi-asserted-by": "crossref",
      "first-page": "755",
      "DOI": "10.1203/01.PDR.0000161413.42874.74",
      "article-title": "Long-chain fatty acid oxidation during early human development",
      "volume": "57",
      "author": "Oey",
      "year": "2005",
      "journal-title": "Pediatr Res"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib40",
      "doi-asserted-by": "crossref",
      "first-page": "67",
      "DOI": "10.1016/S0022-3476(97)70312-3",
      "article-title": "Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients",
      "volume": "130",
      "author": "Tyni",
      "year": "1997",
      "journal-title": "J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib41",
      "doi-asserted-by": "crossref",
      "first-page": "487",
      "DOI": "10.1136/adc.85.6.487",
      "article-title": "Feeding difficulties in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency",
      "volume": "85",
      "author": "Lund",
      "year": "2001",
      "journal-title": "Arch Dis Child"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib42",
      "doi-asserted-by": "crossref",
      "first-page": "640",
      "DOI": "10.1212/WNL.52.3.640",
      "article-title": "Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: Response t cod liver oil",
      "volume": "52",
      "author": "Tein",
      "year": "1999",
      "journal-title": "Neurology"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib43",
      "doi-asserted-by": "crossref",
      "first-page": "1219",
      "DOI": "10.1172/JCI115983",
      "article-title": "Combined enzyme defect of mitochondrial fatty acid oxidation",
      "volume": "90",
      "author": "Jackson",
      "year": "1992",
      "journal-title": "J Clin Invest"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib44",
      "doi-asserted-by": "crossref",
      "first-page": "1139",
      "DOI": "10.1016/0006-291X(92)91350-Y",
      "article-title": "Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidation",
      "volume": "188",
      "author": "Wanders",
      "year": "1992",
      "journal-title": "Biochem Biophys Res Commun"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib45",
      "doi-asserted-by": "crossref",
      "first-page": "66",
      "DOI": "10.1002/mus.10500",
      "article-title": "Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein",
      "volume": "29",
      "author": "Spiekerkoetter",
      "year": "2004",
      "journal-title": "Muscle Nerve"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib46",
      "doi-asserted-by": "crossref",
      "first-page": "684",
      "DOI": "10.1067/mpd.2003.231",
      "article-title": "Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement",
      "volume": "142",
      "author": "Den Boer",
      "year": "2003",
      "journal-title": "J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib47",
      "doi-asserted-by": "crossref",
      "first-page": "178",
      "DOI": "10.1046/j.1442-200x.2004.01861.x",
      "article-title": "Mitochondrial trifunctional protein deficiency in a lethal neonate",
      "volume": "46",
      "author": "Yamazaki",
      "year": "2004",
      "journal-title": "Pediatr Int"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib48",
      "doi-asserted-by": "crossref",
      "first-page": "90",
      "DOI": "10.1007/s00431-002-1035-4",
      "article-title": "Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the \u03b2-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid \u03b2-oxidation with fatal outcome",
      "volume": "162",
      "author": "Schwab",
      "year": "2003",
      "journal-title": "Eur J Pediatr"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib49",
      "doi-asserted-by": "crossref",
      "first-page": "530",
      "DOI": "10.1373/clinchem.2005.062000",
      "article-title": "Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene",
      "volume": "52",
      "author": "Das",
      "year": "2006",
      "journal-title": "Clin Chem"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib50",
      "doi-asserted-by": "crossref",
      "first-page": "195",
      "DOI": "10.1016/j.abb.2004.10.018",
      "article-title": "Studies of human mitochondrial 2,4-dienoyl-CoA reductase",
      "volume": "434",
      "author": "Yu",
      "year": "2005",
      "journal-title": "Arch Biochem Biophys"
    },
    {
      "key": "10.1016/j.spen.2008.05.008_bib51",
      "doi-asserted-by": "crossref",
      "first-page": "1703",
      "DOI": "10.1172/JCI114624",
      "article-title": "2,4-Dienoyl-coenzyme A reductase deficiency: A possible new disorder of fatty acid oxidation",
      "volume": "85",
      "author": "Roe",
      "year": "1990",
      "journal-title": "J Clin Invest"
    }
  ],
  "container-title": "Seminars in Pediatric Neurology",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://api.elsevier.com/content/article/PII:S107190910800051X?httpAccept=text/xml",
      "content-type": "text/xml",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://api.elsevier.com/content/article/PII:S107190910800051X?httpAccept=text/plain",
      "content-type": "text/plain",
      "content-version": "vor",
      "intended-application": "text-mining"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2020,
        5,
        7
      ]
    ],
    "date-time": "2020-05-07T19:23:54Z",
    "timestamp": 1588879434000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://linkinghub.elsevier.com/retrieve/pii/S107190910800051X"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2008,
        9
      ]
    ]
  },
  "references-count": 51,
  "journal-issue": {
    "issue": "3",
    "published-print": {
      "date-parts": [
        [
          2008,
          9
        ]
      ]
    }
  },
  "alternative-id": [
    "S107190910800051X"
  ],
  "URL": "http://dx.doi.org/10.1016/j.spen.2008.05.008",
  "relation": {},
  "ISSN": [
    "1071-9091"
  ],
  "subject": [],
  "container-title-short": "Seminars in Pediatric Neurology",
  "published": {
    "date-parts": [
      [
        2008,
        9
      ]
    ]
  }
}