(Q40603458)

22 September 2017

title

Debrancher deficiency: Neuromuscular disorder in 5 adults (English)

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

24 February 2023

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

24 February 2023

author name string

DiMauro S

1

1 reference

22 September 2017

Hartwig GB

2

1 reference

22 September 2017

Hays A

3

1 reference

22 September 2017

Eastwood AB

4

1 reference

22 September 2017

Franco R

5

1 reference

22 September 2017

Olarte M

6

1 reference

22 September 2017

Chang M

7

1 reference

22 September 2017

Roses AD

8

1 reference

22 September 2017

Fetell M

9

1 reference

22 September 2017

Schoenfeldt RS

10

1 reference

22 September 2017

Stern LZ

11

1 reference

22 September 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=288318

24 February 2023

publication date

1 May 1979

1 reference

full work available at URL

22 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.410050504

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

https://onlinelibrary.wiley.com/doi/full/10.1002/ana.410050504

24 February 2023

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

24 February 2023

1 reference

22 September 2017

volume

5

1 reference

22 September 2017

issue

5

1 reference

22 September 2017

page(s)

422-436

1 reference

The spectrum and diagnosis of acid maltase deficiency.

22 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FANA.410050504

Residual acid maltase activity in late-onset acid maltase deficiency

21 January 2018

1 reference

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Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410050504

Histochemical detection of phosphorylase in animal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410050504

Muscle Phosphofructokinase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410050504

21 January 2018

Neuropatologia polska

1

8

265

Badurska

1970

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain

24 February 2023

2

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

A REPORT OF TWO ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE.

24 February 2023

3

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Studies on the structure and mechanism of action of the glycogen debranching enzymes of muscle nd liver

24 February 2023

5

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting

24 February 2023

6

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Binding of enzymes of glycogen metabolism to glycogen in skeletal muscle

24 February 2023

10

1 reference

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Annales d'anatomie pathologique

24 February 2023

12

18

169

Dreyfus

1973

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

24 February 2023

15

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

24 February 2023

18

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Hyperlipemia in children with liver glycogen disease

24 February 2023

20

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Ketosis in hepatic glycogenosis

24 February 2023

21

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

The Determination of Amylo-1,6-Glucosidase

24 February 2023

23

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

AMYLO-1,6-GLUCOSIDASE ACTIVITY IN NORMAL LEUCOCYTES AND IN LEUCOCYTES OF PATIENTS WITH GLYCOGEN-STORAGE DISEASE

24 February 2023

26

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Glycogen metabolism and glycogen-storage diseases

24 February 2023

27

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

The quantitative enzymic determination of animal liver glycogen

24 February 2023

30

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease

24 February 2023

31

1 reference

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A method for the colorimetric estimation of glycogen with lodine

24 February 2023

32

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Gross cardiac involvement in glycogen storage disease type 3

24 February 2023

36

1 reference

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Glycogen storage disease in Norway

24 February 2023

37

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Myopathy associated with Type III glycogenosis

24 February 2023

39

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Purification and properties of rabbit muscle amylo-1,6-glucosidase-oligo-1,4 →1,4-transferase

24 February 2023

40

1 reference

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24 February 2023

42

9

243

Oliner

1961

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Biochemical investigation of an unusual case of glycogenosis.

24 February 2023

43

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

The specificity of the histochemical method for adenosine triphosphatase

24 February 2023

44

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

A study of fixation for electron microscopy

24 February 2023

45

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

24 February 2023

Acta medica Scandinavica

47

472

294

Pernow

1967

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Cardiovascular and Metabolic Responses to Exercise in a Patient with McArdle's Syndrome

24 February 2023

48

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

MCARDLE'S DISEASE. HEREDITARY MYOPATHY DUE TO ABSENCE OF MUSCLE PHOSPHORYLASE

24 February 2023

49

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Ultrastructural Studies of Ring Fibers in Human Muscle Disease

24 February 2023

51

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Ultrastructural studies of muscle in McArdle's disease

24 February 2023

52

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

AMYLO-1,6-GLUCOSIDASE ACTIVITY IN LEUCOCYTES FROM PATIENTS WITH GLYCOGEN STORAGE DISEASE

24 February 2023

55

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency

24 February 2023

57

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

DIFFERENTIAL DIAGNOSIS OF THE TYPE OF GLYCOGEN DISEASE IN TWO ADULT PATIENTS WITH LONG HISTORY OF GLYCOGENOSIS

24 February 2023

58

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

GLYCOGEN STORAGE DISEASE. BIOCHEMICAL AND CLINICAL DATA IN SIXTEEN CASES.

24 February 2023

59

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Amylo-1,6-Glucosidase Activity and Glycogen Content of the Erythrocytes of Normal Subjects, Patients with Glycogen Storage Disease and Heterozygotes

24 February 2023

60

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

The Subgroups of Type III Glycogenosis

24 February 2023

61

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

Leukocyte debranching enzyme in glycogen storage disease

24 February 2023

62

1 reference

https://api.crossref.org/works/10.1002/ANA.410050504

24 February 2023

Identifiers

1 reference

release_wkn6eq3rtbenplyuubtrmcxvbq

22 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wkn6eq3rtbenplyuubtrmcxvbq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference