Glycogen storage disease type III diagnosis and management guidelines (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

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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

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

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

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

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

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

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The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

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

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Gross cardiac involvement in glycogen storage disease type 3

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

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

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

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The molecular background of glycogen metabolism disorders.

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

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Diagnosis of inherited disorders of liver metabolism

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

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Ketosis in hepatic glycogenosis

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Hepatomegaly in neonates and children

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

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Pompe disease: a neuromuscular disease with respiratory muscle involvement

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Different clinical aspects of debrancher deficiency myopathy

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

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Debrancher deficiency: Neuromuscular disorder in 5 adults

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Molecular characterization of glycogen storage disease type III.

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

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Possible prenatal diagnosis of type III glycogenosis

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

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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

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

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

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Glycogen storage disease in adults

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

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

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

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The long-term outcome of patients with glycogen storage diseases

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Glycogen storage disease: recommendations for treatment

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Nutrition therapy for hepatic glycogen storage diseases

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

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

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Aerobic conditioning: an effective therapy in McArdle's disease

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Drug-induced disorders of glucose metabolism. Mechanisms and management

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Sex hormones and risk of liver tumor.

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Effects of anesthetics on various organs

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

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Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential

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10.1097/GIM.0B013E3181E655B6

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

2141432

1044376609

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2141432

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference