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Case Report - Hurler syndrome with a tuft of hair, 12/2006
A 2-year-old girl presented with coarse, thick hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent... 
Bone marrow, Hurler syndrome, Mucopolysaccharidosis (MPS) - type I, Transplantation
Journal
Developmental Medicine & Child Neurology, ISSN 0012-1622, 01/2018, Volume 60, Issue 1, pp. 13 - 18
For a few lysosomal storage disorders, new therapies are available or under development. These therapies include enzyme replacement therapy, small molecules,... 
HURLER-SYNDROME | DISEASE | ALPHA | PEDIATRICS | GENE-THERAPY | IIIA | MUTATIONS | SUPPRESSION | CLINICAL NEUROLOGY
Journal Article
Blood, ISSN 0006-4971, 03/2015, Volume 125, Issue 13, pp. 2016 - 2017
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 12/2018, Volume 33, Issue 14, pp. 882 - 887
Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most... 
hematopoietic cell transplantation | leukodystrophy | HURLER-SYNDROME | CORD BLOOD TRANSPLANTATION | BONE-MARROW TRANSPLANT | DISEASE | METACHROMATIC LEUKODYSTROPHY | ADRENOLEUKODYSTROPHY | PEDIATRICS | OUTCOMES | CLINICAL NEUROLOGY
Journal Article
Gene, ISSN 0378-1119, 12/2018, Volume 678, pp. 33 - 37
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder (LSD). It is caused by mutations in the gene, which lead to the accumulation of the... 
Hurler syndrome | Mucopolysaccharidosis | Gene editing | CRISPR-Cas9 | MUCOPOLYSACCHARIDOSIS TYPE-I | DISEASE | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | Enzymes | Anopheles | Analysis | Genes | Genomics | Stem cells | Genetic research | Sulfates
Journal Article
Journal of Orthopaedics, ISSN 0972-978X, 2018, Volume 15, Issue 1, pp. 111 - 113
Abstract Life expectancy in Hurler syndrome is significantly improved by enzyme therapy with bone marrow transplantation. However, the deterioration of... 
Orthopedics | Hurler syndrome | Mucopolysaccharidosis | Total hip arthroplasty
Journal Article
Pediatrics, ISSN 0031-4005, 01/2009, Volume 123, Issue 1, pp. 19 - 29
Journal Article
Transplantation Direct, ISSN 0041-1337, 06/2019, Volume 103, Issue 6, pp. 1247 - 1252
BACKGROUND.For many inborn errors of metabolism (IEM), allogeneic hematopoietic stem cell transplantation (HSCT) is the only cure. METHODS.We report the... 
SURGERY | HURLER-SYNDROME | BONE-MARROW-TRANSPLANTATION | UNRELATED DONORS | CYTOMEGALOVIRUS-INFECTION | SINGLE-CENTER | GRAFT FAILURE | IMMUNOLOGY | VERSUS-HOST-DISEASE | INBORN-ERRORS | TRANSPLANTATION | TERM-FOLLOW-UP | PANCYTOPENIC PHASE
Journal Article
Revista Cubana de Medicina Militar, ISSN 0138-6557, 01/2016, Volume 45, Issue 1
Journal Article
ARCHIVES DE PEDIATRIE, ISSN 0929-693X, 04/2014, Volume 21, Issue 4, pp. 415 - 417
Journal Article
Biopolymers and Cell, ISSN 0233-7657, 2016, Volume 32, Issue 6, pp. 442 - 449
Mucopolysaccharidosis I (MPS I) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the deficiency of the lysosomal enzyme... 
Hurler syndrome | Mucopolysaccharidosis | Scheie syndrome | α-L-iduronidase | mucopolysaccharidosis
Journal Article
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 09/2019, Volume 10, Issue 1, pp. 4045 - 14
Journal Article
Journal Article