Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy (Q69416803)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2606128%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

title

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy (English)

1 reference

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1 October 2019

main subject

mitochondrial myopathy

1 reference

inferred from title

glycogen storage disease

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glycogen metabolic process

inferred from title

1 reference

H Hurvitz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2606128%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

O N Elpeleg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2606128%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

V Barash

3

1 reference

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1 October 2019

E Kerem

4

1 reference

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1 October 2019

R M Reifen

5

1 reference

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1 October 2019

W Ruitenbeek

6

1 reference

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1 October 2019

C Mor

7

1 reference

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1 October 2019

D Branski

8

1 reference

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1 October 2019

publication date

1 October 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2606128%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

1 October 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2606128%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

volume

149

1 reference

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1 October 2019

issue

1

1 reference

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1 October 2019

page(s)

48-51

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https://scigraph.springernature.com/pub.10.1007/bf02024334

1 October 2019

exact match

0 references

cites work

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1 reference

12 December 2020

Glycogenosis of the liver with galactose utilization disorder and a severe Fanconi syndrome

1 reference

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

1 reference

12 December 2020

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1 reference

12 December 2020

Effect of glutamine on fructose 2,6-bisphosphate and on glucose metabolism in HeLa cells and in chick-embryo fibroblasts

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12 December 2020

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A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

12 December 2020

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1 reference

12 December 2020

Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction

1 reference

12 December 2020

The fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactose

1 reference

12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

12 December 2020

[Coexistence of liver glycogenosis, Fanconi's syndrome and abnormal galactose metabolism in a 3-year-old child]

1 reference

12 December 2020

Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome

1 reference

12 December 2020

Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease

1 reference

12 December 2020

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

1 reference

12 December 2020

Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings

1 reference

12 December 2020

Fanconi-Bickel syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL

1 reference

12 December 2020

The effects of glucose and of potassium ions on the interconversion of the two forms of glycogen phosphorylase and of glycogen synthetase in isolated rat liver preparations

1 reference

12 December 2020

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency

1 reference

12 December 2020

[Debré-De Toni-Fanconi syndrome with glycogenosis of the liver]

1 reference

12 December 2020

[GLYCOGENOSIS OF THE LIVER WITH AMINOACIDURIA AND GLYCOSURIA. CLINICAL AND BIOCHEMICAL STUDIES]

1 reference

12 December 2020