Genotypic Heterogeneity and Phenotypic Variation among Patients with Type 2 Gaucher's Disease
- 1 May 1998
- journal article
- case report
- Published by Springer Nature in Pediatric Research
- Vol. 43 (5) , 571-578
- https://doi.org/10.1203/00006450-199805000-00003
Abstract
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.Keywords
This publication has 42 references indexed in Scilit:
- Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.Journal of Clinical Investigation, 1997
- Hematologically Important Mutations: Gaucher DiseaseBlood Cells, Molecules, and Diseases, 1997
- Mutation screening of 17 Japanese patients with neuropathic Gaucher diseaseHuman Genetics, 1996
- The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.Journal of Medical Genetics, 1996
- Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher diseaseAmerican Journal of Medical Genetics, 1995
- Homozygous Presence of the Crossover (Fusion Gene) Mutation Identified in a Type II Gaucher Disease Fetus: Is This Analogous to the Gaucher Knock-out Mouse Model?Biochemical Medicine and Metabolic Biology, 1994
- New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444PHuman Molecular Genetics, 1994
- Enzyme Replacement Therapy of Infantile Gaucher DiseaseNeuropediatrics, 1993
- A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's DiseaseNew England Journal of Medicine, 1987
- Congenital ascites as a presenting sign of lysosomal storage diseaseThe Journal of Pediatrics, 1984