Laboratory and genetic evaluation of Gaucher disease Labordiagnostik bei Morbus Gaucher (original) (raw)
Diagnosis of Lysosomal Storage Disorders: Gaucher Disease
Angela Dajnoki
Current Protocols in Human Genetics, 2001
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Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease
Sonja Van Weely
Journal of Inherited Metabolic Disease, 1993
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Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases
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Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity
Michael Fietz
Molecular Genetics and Metabolism, 2002
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First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene
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Clinico-hematological profile of lysosomal storage disorders — a report of three cases
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Indian Journal of Hematology and Blood Transfusion, 2008
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Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience
Dr. Zeinab Abdallah
Heliyon, 2019
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Biochemical properties of β-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers
Roberto Giugliani
Clinica Chimica Acta, 2005
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Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies
Helen Michelakakis
Journal of Inherited Metabolic Disease, 1995
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Gaucher's disease: the changing paradigm of a lysosomal disorder
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Gaucher’s disease is a common storage disorder but rare entity: Two case report
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Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene
Paula Arévalo
Clinical Chemistry and Laboratory Medicine (CCLM), 2020
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Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
Jyotsna Verma
JIMD Reports, 2016
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Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients
Mirella Filocamo, Stefano Regis, Fiorina Giona
Human Mutation, 2002
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Lysosomal storage disorders: Molecular basis and laboratory testing
Mirella Filocamo
Human Genomics, 2011
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Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes
Othman Soliman
World Journal of Pediatrics, 2011
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High Prevalence of the 55-bp Deletion (c.1263del55) in Exon 9 of the Glucocerebrosidase Gene Causing Misdiagnosis (for Homozygous N370S (c.1226A > G) Mutation) in Spanish Gaucher Disease Patients
Pilar Alfonso
Blood Cells, Molecules, and Diseases, 2002
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Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl
Richard Hodes
Proceedings of the National Academy of Sciences, 2010
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Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
Frenny Sheth
Journal of Human Genetics, 2014
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Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
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JIMD Reports, 2012
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Genetic and clinical characteristics of Filipino patients with Gaucher disease
Mary Chiong
Molecular Genetics and Metabolism Reports, 2018
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Spectrum of lysosomal storage disorders at a medical genetics center in Northern India
Prajnya Ranganath
Indian Pediatrics, 2012
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Enzymic diagnosis in 27 cases with Gaucher's disease
Klaus Harzer
Clinica Chimica Acta, 1980
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Gaucher disease
Rafiu Ariganjoye
Neurosciences, 2015
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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts
Ineke Jansen
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991
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Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher disease
Sabika Firasat
Genetika, 2021
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