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

S Vora; S DiMauro; D Spear; D Harker; M J Danon

doi:10.1172/jci113229

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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Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2007.07.006 ◽

2007 ◽

Vol 92 (4) ◽

pp. 325-335 ◽

Cited By ~ 20

Author(s):

M.E. McCready ◽

N.L. Carson ◽

P. Chakraborty ◽

J.T.R. Clarke ◽

J.W. Callahan ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Mutation Spectrum ◽

Type Ii ◽

Clinical Assay

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Cloning and Characterization of cDNAs Encoding a Candidate Glycogen Storage Disease Type 1b Protein in Rodents

Journal of Biological Chemistry ◽

10.1074/jbc.273.48.31656 ◽

1998 ◽

Vol 273 (48) ◽

pp. 31656-31660 ◽

Cited By ~ 60

Author(s):

Baochuan Lin ◽

Borhane Annabi ◽

Hisayuki Hiraiwa ◽

Chi-Jiunn Pan ◽

Janice Yang Chou

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type

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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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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-009-9026-5 ◽

2010 ◽

Vol 33 (S3) ◽

pp. 83-90 ◽

Cited By ~ 21

Author(s):

Sing-Chung Li ◽

Chiao-Ming Chen ◽

Jennifer L. Goldstein ◽

Jer-Yuarn Wu ◽

Emmanuelle Lemyre ◽

...

Keyword(s):

Molecular Characterization ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Novel Mutations ◽

Type Iv

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Erratum: Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Journal of Human Genetics ◽

10.1038/jhg.2012.3 ◽

2012 ◽

Vol 57 (3) ◽

pp. 221-221

Author(s):

Amira Mili ◽

Ilhem Ben Charfeddine ◽

Ons Mama ◽

Sonia Abdelhak ◽

Labiba Adala ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Biochemical Characterization ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Iii ◽

Tunisian Patients

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Alglucosidase alfa effectively improves functional aspects of late-onset glycogen storage disease type II

Inpharma Weekly ◽

10.2165/00128413-200816190-00039 ◽

2008 ◽

Vol &NA; (1619) ◽

pp. 15

Author(s):

&NA;

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Late Onset ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Functional Aspects ◽

Alglucosidase Alfa

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Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

Journal of Inherited Metabolic Disease ◽

10.1007/bf00711368 ◽

1995 ◽

Vol 18 (1) ◽

pp. 21-27 ◽

Cited By ~ 25

Author(s):

R. Parvari ◽

S. Moses ◽

E. Hershkovitz ◽

R. Carmi ◽

N. Bashan

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type

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First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation

Journal of Neuromuscular Diseases ◽

10.3233/jnd-159024 ◽

2015 ◽

Vol 2 (s1) ◽

pp. S26-S26

Author(s):

S.S. Nikitin ◽

M.O. Kovalchuk ◽

E.A. Proskurina ◽

I.V. Khoroshaya

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Late Onset ◽

Novel Mutation ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

First Case

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Molecular diagnosis of German patients with late-onset glycogen storage disease type II

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-008-0820-2 ◽

2008 ◽

Vol 31 (S2) ◽

pp. 261-265 ◽

Cited By ~ 31

Author(s):

P. R. Joshi ◽

D. Gläser ◽

S. Schmidt ◽

M. Vorgerd ◽

M. Winterholler ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Molecular Diagnosis ◽

Storage Disease ◽

Late Onset ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii

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