DOI: 10.1016/s0022-3476(89)80333-6. Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship

Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship

10.1016/s0022-3476(89)80333-6

Crossref journal-article

Elsevier BV

The Journal of Pediatrics (78)

Bibliography

Booth, F. A., Haworth, J. C., Dilling, L. A., Perry, T. L., Greenberg, C. R., Seargeant, L. E., Penn, A. M., & Rhead, W. J. (1989). Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship. The Journal of Pediatrics, 115(1), 81â88.

Authors 8

F.A. Booth (first)
J.C. Haworth (additional)
L.A. Dilling (additional)
T.L. Perry (additional)
C.R. Greenberg (additional)
L.E. Seargeant (additional)
A.M. Penn (additional)
W.J. Rhead (additional)

References 42 Referenced 4

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10.1001/archopht.1958.00940080296016 / Arch Ophthalmol / Retinitis pigmentosa, external ophthalmoplegia and complete heart block by Kearns (1958)
10.1136/jnnp.14.3.216 / J Neurol Neurosurg Psychiatry / Subacute necrotizing encephalomyolopathy in an infant by Leigh (1951)
10.1001/archneurpsyc.1931.02230030027002 / Arch Neurol Psychiatry / Diffuse progressive degeneration of the grey matter of the cerebrum by Alpers (1931)
10.1016/0021-9673(68)85074-5 / J Chromatogr / A versatile lithium buffer elution system for single column automatic amino acid chromatography by Perry (1968)
10.1111/j.1471-4159.1975.tb07680.x / J Neurochem / CSF amino acids and plasma-CSF amino acid ratios in adults by Perry (1975)
{'key': '10.1016/S0022-3476(89)80333-6_bib8_1', 'first-page': '1446', 'volume': 'vol 3', 'author': 'Bergmeyer', 'year': '1974'} by Bergmeyer (1974)
{'key': '10.1016/S0022-3476(89)80333-6_bib8_2', 'first-page': '1464', 'volume': 'vol 3', 'author': 'Bergmeyer', 'year': '1974'} by Bergmeyer (1974)
{'key': '10.1016/S0022-3476(89)80333-6_bib9', 'first-page': '1836', 'volume': 'vol 4', 'author': 'Bergmeyer', 'year': '1974'} by Bergmeyer (1974)
10.1016/0002-8703(73)90502-4 / Am Heart J / Maximal oxygen intake and nomographic assessment of functional aerobic impairment in cardiovascular disease by Bruce (1973)
10.1016/0003-2697(84)90530-X / Anal Biochem / Quantitative determination of coenzyme Q10 in human blood for clinical studies by Vadhanavikit (1984)
{'key': '10.1016/S0022-3476(89)80333-6_bib12', 'series-title': 'Book of abstracts: works in progress; 5th annual meeting', 'first-page': '67', 'article-title': 'Fatigue in multiple sclerosis: new suggestions from P-NMR studies', 'author': 'Hall', 'year': '1986'} / Book of abstracts: works in progress; 5th annual meeting / Fatigue in multiple sclerosis: new suggestions from P-NMR studies by Hall (1986)
10.1016/0002-9149(78)90134-0 / Am J Cardiol / Bruce treadmill test in children: normal values in a clinic population by Cumming (1987)
10.1055/s-2008-1034632 / Int J Sports Med / High serum lactates do occur in young children after maximal work by Cumming (1980)
10.1203/00006450-198704010-01069 / Pediatr Res / Mitochondrial NADH-CoQ oxidoreductase (complex I) deficiency in man by Rhead (1987)
{'key': '10.1016/S0022-3476(89)80333-6_bib16', 'first-page': '938', 'article-title': 'Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia', 'volume': '37', 'author': 'Robinson', 'year': '1985', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia by Robinson (1985)
10.1016/0076-6879(69)13072-4 / Methods in enzymology / Assays of intermediates of the citric acid cycle and related components by fluorometric enzyme methods by Williamson (1969)
10.1007/BF01812852 / J Inherited Metab Dis / Mitochondrial myopathies by DiMauro (1987)
10.1007/BF01812848 / J Inherited Metab Dis / Morphological observations in skeletal muscle from patients with a mitochondrial myopathy by Stadhouders (1987)
10.1007/BF01805527 / J Inherited Metab Dis / An unusual aminoacidopathy associated with mitochondrial encephalomyopathy by Perry (1989)
10.1016/0022-510X(85)90040-1 / J Neurol Sci / A mitochondrial encephalomyopathy: a combined 31P magnetic resonance and biochemical investigation by Hayes (1985)
10.1007/BF01799670 / J Inherited Metab Dis / Mitochondrial myopathy, encephalopathy, lacticacidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency by Kobayashi (1986)
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10.1172/JCI112453 / J Clin Invest / Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia by Robinson (1986)
10.1172/JCI111484 / J Clin Invest / Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis by Moreadith (1984)
10.1016/S0022-3476(87)80157-9 / J Pediatr / Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease by Robinson (1987)
10.1016/0022-510X(87)90060-8 / J Neurol Sci / A mitochondrial encephalomyopathy with cardiomyopathy: a case revealing a defect of complex I in the respiratory chain by Nishizawa (1987)
10.1172/JCI113066 / J Clin Invest / Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport: fatal infantile lactic acidosis and hypermetabolism with skeletal cardiac myopathy and encephalopathy by Hoppel (1987)
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Dates

Type	When
Created	19 years, 5 months ago (March 30, 2006, 2:19 a.m.)
Deposited	6 years, 7 months ago (Jan. 17, 2019, 1:52 a.m.)
Indexed	1 year, 10 months ago (Oct. 24, 2023, 2:36 a.m.)
Issued	36 years, 2 months ago (July 1, 1989)
Published	36 years, 2 months ago (July 1, 1989)
Published Print	36 years, 2 months ago (July 1, 1989)

Funders 0

None

BibTeX

@article{Booth_1989, title={Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship}, volume={115}, ISSN={0022-3476}, url={http://dx.doi.org/10.1016/s0022-3476(89)80333-6}, DOI={10.1016/s0022-3476(89)80333-6}, number={1}, journal={The Journal of Pediatrics}, publisher={Elsevier BV}, author={Booth, F.A. and Haworth, J.C. and Dilling, L.A. and Perry, T.L. and Greenberg, C.R. and Seargeant, L.E. and Penn, A.M. and Rhead, W.J.}, year={1989}, month=jul, pages={81–88} }

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