(Q59697231)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7577396%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain (English)

1 reference

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21 October 2019

1 reference

6

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21 October 2019

author name string

A A Morris

1

1 reference

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21 October 2019

R W Taylor

2

1 reference

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21 October 2019

M A Birch-Machin

3

1 reference

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21 October 2019

M J Jackson

4

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21 October 2019

M G Coulthard

5

1 reference

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21 October 2019

R J Welch

7

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21 October 2019

N Howell

8

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21 October 2019

D M Turnbull

9

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21 October 2019

publication date

1 August 1995

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21 October 2019

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21 October 2019

volume

9

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21 October 2019

issue

4

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21 October 2019

page(s)

407-411

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https://scigraph.springernature.com/pub.10.1007/bf00866711

21 October 2019

exact match

0 references

cites work

31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.

1 reference

12 December 2020

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

1 reference

12 December 2020

Subunit arrangement in beef heart complex III.

1 reference

12 December 2020

Skeletal muscle mitochondrial beta-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection

1 reference

12 December 2020

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

1 reference

12 December 2020

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1 reference

12 December 2020

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

1 reference

12 December 2020

Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain

1 reference

12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

12 December 2020

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness

1 reference

12 December 2020

Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase

1 reference

12 December 2020

A simplification of the protein assay method of Lowry et al. which is more generally applicable

1 reference

12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

1 reference

12 December 2020

Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

1 reference

12 December 2020

Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

12 December 2020

Mitochondrial encephalomyopathies

1 reference

12 December 2020

Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndrome

1 reference

12 December 2020

Mitochondrial myopathies

1 reference

12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00866711

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7577396%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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