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Publications by Mihael H. Polymeropoulos

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

American Journal of Human Genetics

English

Related publications

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

American Journal of Human Genetics

English

Mutations in the Liver Glycogen Synthase Gene in Children With Hypoglycemia Due to Glycogen Storage Disease Type 0.

Journal of Clinical Investigation

English

Impaired Metabolic Function and Signaling Defects in Phagocytic Cells in Glycogen Storage Disease Type 1b.

Journal of Clinical Investigation

English

History Case of Multiple Hepatic Adenomas in Adolescent With Severe Course of Glycogen Storage Disease Type 1b

Vestnik Rossiiskoi Akademii Meditsinskikh Nauk

English

Chimerism After Liver Transplantation for Type IV Glycogen Storage Disease and Type 1 Gaucher's Disease

New England Journal of Medicine

English

Interferon-Γ Corrects the Respiratory Burst Defect in Vitro in Monocyte-Derived Macrophages From Glycogen Storage Disease Type 1b Patients

Pediatric Research

English

Hepatic and Neuromuscular Forms of Glycogen Storage Disease Type IV Caused by Mutations in the Same Glycogen-Branching Enzyme Gene.

Journal of Clinical Investigation

English

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

Journal of Inborn Errors of Metabolism and Screening

English

Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a

Journal of Inborn Errors of Metabolism and Screening

English