Glycogen storage disease due to muscle phosphofructokinase deficiency

Fatal familial infantile glycogen storage disease: Multisystem phosphofructokinase deficiency

Muscle & Nerve ◽

10.1002/mus.880150406 ◽

1992 ◽

Vol 15 (4) ◽

pp. 455-458 ◽

Cited By ~ 35

Author(s):

Rami Amit ◽

Nava Bashan ◽

Jacob M. Abarbanel ◽

Yehuda Shapira ◽

Shaul Sofer ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage ◽

Phosphofructokinase Deficiency

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Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Frontiers in Neurology ◽

10.3389/fneur.2020.00057 ◽

2020 ◽

Vol 11 ◽

Cited By ~ 2

Author(s):

Minna E. Similä ◽

Mari Auranen ◽

Päivi Liisa Piirilä

Keyword(s):

Ketogenic Diet ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Beneficial Effects ◽

Phosphofructokinase Deficiency

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Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.

Journal of Clinical Investigation ◽

10.1172/jci113229 ◽

1987 ◽

Vol 80 (5) ◽

pp. 1479-1485 ◽

Cited By ~ 19

Author(s):

S Vora ◽

S DiMauro ◽

D Spear ◽

D Harker ◽

M J Danon

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Late Onset ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Phosphofructokinase Deficiency ◽

Enzymatic Defect

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Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.82.23.8109 ◽

1985 ◽

Vol 82 (23) ◽

pp. 8109-8113 ◽

Cited By ~ 23

Author(s):

S. Vora ◽

U. Giger ◽

S. Turchen ◽

J. W. Harvey

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Phosphofructokinase Deficiency

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Abstract #794505: Nutritional Management of Glycogen Storage Disease of The Liver Type Ia in the Septic Setting, Demonstrated by a Case and Review of Literature

Endocrine Practice ◽

10.1016/s1530-891x(20)39443-x ◽

2020 ◽

Vol 26 ◽

pp. 170

Author(s):

Scarlette Garcia

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage ◽

Nutritional Management ◽

Review Of Literature ◽

Type Ia

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Calcium as a marker of metabolic decompensation in glycogen storage disease type-1a

Endocrine Abstracts ◽

10.1530/endoabs.41.ep152 ◽

2016 ◽

Author(s):

Suleyman Nahit Sendur ◽

Ugur Unluturk ◽

Selcuk Dagdelen

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Metabolic Decompensation

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Orphan designation: miglustat, Treatment of glycogen storage disease type II (Pompe's disease)

Case Medical Research ◽

10.31525/cmr-ea52d0 ◽

2019 ◽

Author(s):

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Orphan Designation ◽

Pompe’S Disease ◽

Pompe's Disease

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Recurrence Quantification Analysis of Sustained Sub-Maximal Grip Force in Patients with Glycogen Storage Disease Type III

7th IFAC Symposium on Modelling and Control in Biomedical Systems ◽

10.3182/20090812-3-dk-2006.00067 ◽

2009 ◽

Author(s):

Li, Ke

Keyword(s):

Glycogen Storage Disease ◽

Grip Force ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Recurrence Quantification Analysis ◽

Disease Type ◽

Type Iii ◽

Recurrence Quantification ◽

Quantification Analysis

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Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)43502-8 ◽

1980 ◽

Vol 255 (18) ◽

pp. 8381-8384 ◽

Cited By ~ 5

Author(s):

A.J. Lange ◽

W.J. Arion ◽

A.L. Beaudet

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage ◽

Phosphatase System

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Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-007-0737-1 ◽

2007 ◽

Vol 30 (6) ◽

pp. 989-989 ◽

Cited By ~ 10

Author(s):

E. Barkaoui ◽

W. Cherif ◽

N. Tebib ◽

C. Charfeddine ◽

F. Ben Rhouma ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Molecular Diagnosis ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Mutation Spectrum ◽

Type Ia

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