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Genetics and molecular biology, ISSN 1678-4685, 2017, Volume 40, Issue 1, pp. 31 - 39
Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in... 
Brazil | Lysosomal storage diseases | Biochemical genetics | Reference center | Epidemiology | epidemiology | METABOLISM | biochemical genetics | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | reference center | DISORDERS | PREVALENCE | INBORN-ERRORS | Special Series of - 60 Years of The Brazilian Society of Genetics
Journal Article
Application of Clinical Genetics, ISSN 1178-704X, 10/2015, Volume 8, pp. 245 - 255
Journal Article
Genetics and molecular biology, ISSN 1678-4685, 2010, Volume 33, Issue 4, pp. 589 - 604
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S39 - S39
Journal Article
Genetics and Molecular Biology, ISSN 1678-4685, 03/2017, Volume 40, Issue 1, pp. 31 - 39
Abstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4833, 2020, Volume 182, Issue 3, pp. 469 - 483
Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to... 
birth prevalence | epidemiology | heterozygosity | mucopolysaccharidoses | frequency | DISORDERS | LYSOSOMAL STORAGE DISEASES | SCREENING-PROGRAM | INBORN-ERRORS | RATES | MPS | METABOLISM | GENETICS & HEREDITY | RELATIVE FREQUENCY | Heterozygotes | Mucopolysaccharidosis | Birth | IDUA gene
Journal Article
Research and reports in endocrine disorders, ISSN 2230-2271, 01/2012, Volume 2, Issue default, pp. 53 - 64
The mucopolysaccharidoses (MPS) are a group of diseases arising from one of eleven different enzyme defects, each one affecting one single step of the... 
Enzymes | Mucopolysaccharidosis | Biological products | Gene therapy | Medical screening | Defects
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. S17 - S18
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. S43 - S43
Journal Article
Journal Article
Journal of Inborn Errors of Metabolism and Screening, ISSN 2326-4098, 2/2015, Volume 3, p. 232640981456774
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2013, Volume 108, Issue 2, pp. S43 - S44
Journal Article
Magazine Article
05/2010, Volume 56, Issue 3
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG).... 
Enzyme Replacement Therapy - methods | Humans | Brazil | Enzyme Replacement Therapy - utilization | Mucopolysaccharidoses - classification | Mucopolysaccharidoses - drug therapy | Practice Guidelines as Topic
Magazine Article
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