(Q28287932)

2

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Pamela Arn

3

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Deeksha S Bali

4

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Anne Boney

5

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Laura E Case

6

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Wendy K Chung

7

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Dev M Desai

8

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Areeg El-Gharbawy

9

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Ronald Haller

10

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G Peter A Smit

11

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Alastair D Smith

12

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Lisa D Hobson-Webb

13

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Stephanie Burns Wechsler

14

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David A Weinstein

15

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Michael S Watson

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region

16

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language of work or name

English

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publication date

July 2010

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published in

Genetics in Medicine

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volume

12

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issue

7

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page(s)

446-63

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cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Liver transplantation for glycogen storage disease types I, III, and IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Liver glycogenoses: are they a possible cause of polyneuropathy? A cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Gross cardiac involvement in glycogen storage disease type 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

The molecular background of glycogen metabolism disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Diagnosis of inherited disorders of liver metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Ketosis in hepatic glycogenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Hepatomegaly in neonates and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Pompe disease: a neuromuscular disease with respiratory muscle involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Different clinical aspects of debrancher deficiency myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Glycogen storage disease, types I to X: criteria for morphologic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Debrancher deficiency: Neuromuscular disorder in 5 adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Molecular characterization of glycogen storage disease type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Possible prenatal diagnosis of type III glycogenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Glycogen Metabolism and Storage Diseases of Types III , IV, and V

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Glycogen storage disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Nesiritide as bridge to multi-organ transplantation: a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

The long-term outcome of patients with glycogen storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Glycogen storage disease: recommendations for treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Nutrition therapy for hepatic glycogen storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Model for end-stage liver disease (MELD) and allocation of donor livers

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Long-term results of living donor liver transplantation for glycogen storage disorders in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Neuromuscular involvement in glycogen storage disease type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Aerobic conditioning: an effective therapy in McArdle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Drug-induced disorders of glucose metabolism. Mechanisms and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Sex hormones and risk of liver tumor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Contraception and pregnancy in women affected by glycogen storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

A prospective study of the forearm bone density of users of etonorgestrel- and levonorgestrel-releasing contraceptive implants

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Effects of anesthetics on various organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6

Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E655B6