Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review (original) (raw)
Related papers
Female Fabry disease patients and X-chromosome inactivation
Gene, 2018
Overview of immune abnormalities in lysosomal storage disorders
Immunology letters, 2017
X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis
International Journal of Molecular Sciences, 2021
Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles
Acta Paediatrica, 2007
Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
Advances in Biological Chemistry, 2011
Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
Journal of Cell Biology, 2012
Mucopolysaccharidoses and Other Lysosomal Storage Diseases
Fabry disease: a treatable lysosomal storage disorder
The National medical journal of India
AJP: Cell Physiology, 2005
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1998
Journal of Medical Genetics, 1996
Lysosomal storage disorders: Molecular basis and laboratory testing
Human Genomics, 2011
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy
American Journal of Medical Genetics Part A, 2012
Lysosomal diseases: Overview on current diagnosis and treatment
Genetics and Molecular Biology
Mutation identification of Fabry disease in families with other lysosomal storage disorders
Clinical Genetics, 2013
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures
Journal of Medical Genetics, 1980
Secondary biochemical and morphological consequences in lysosomal storage diseases
Biochemistry (Moscow), 2014
Menkes X linked disease: two clonal cell populations in heterozygotes
Journal of Medical Genetics, 1980
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
Journal of Clinical Investigation, 2000
European Journal of Mass Spectrometry, 2013
Maternal germline mosaicism in Fabry disease
Neurological Sciences, 2019
American Journal of Medical Genetics Part A, 2010
Abnormal transport along the lysosomal pathway in Mucolipidosis, type IV disease
Proceedings of the National Academy of Sciences, 1998
Lysosomal storage disorders: old diseases, present and future challenges.
Spectrum of lysosomal storage disorders at a medical genetics center in Northern India
Indian Pediatrics, 2012
Indian pediatrics, 2004
Journal of Medical Genetics, 2003
Expression of lysosomal enzymes in human mutant fibroblast-chick erythrocyte heterokaryons
Experimental Cell Research, 1982