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BMC Medical Genetics, ISSN 1471-2350, 09/2018, Volume 19, Issue 1, pp. 162 - 7
Background: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta... 
GlcNAc-1-phosphotransferase | Mucolipidosis III alpha/beta | GNPTAB | Pseudo-hurler polydystrophy | P.Q802 | Nonsense variant | MUCOPOLYSACCHARIDOSES | PHENOTYPE | SUBUNITS | LYSOSOMAL STORAGE DISORDERS | TANDEM MASS-SPECTROMETRY | TRANSPLANTATION | GENETIC-VARIATION | GENETICS & HEREDITY | OUTCOMES | I-CELL-DISEASE | Iduronate Sulfatase - metabolism | Transferases (Other Substituted Phosphate Groups) - genetics | Humans | beta-Hexosaminidase alpha Chain - metabolism | Child, Preschool | Lysosomes - enzymology | Male | Mucolipidoses - diagnosis | N-Acetylgalactosamine-4-Sulfatase - genetics | Chondroitinsulfatases - metabolism | beta-Hexosaminidase alpha Chain - genetics | Lysosomes - pathology | Transferases (Other Substituted Phosphate Groups) - deficiency | Iduronidase - genetics | Chondroitinsulfatases - genetics | Iduronidase - metabolism | Mucolipidoses - enzymology | Gene Expression Regulation | Mucolipidoses - genetics | Codon, Nonsense | Genes, Recessive | Mucolipidoses - pathology | Pedigree | Iduronate Sulfatase - genetics | N-Acetylgalactosamine-4-Sulfatase - metabolism | Case studies | Gene mutations | Genetic variation | Mucolipidoses | Transferases | Genetic research | Genetic aspects | Health aspects | Neonates | Inborn errors of metabolism | Transplants & implants | Nonsense mutation | Systematic review | Mannose | Mucopolysaccharidosis | Microcephaly | Genetic screening | Hernia | Genotype & phenotype | Enzymatic activity | Bone marrow | Genotypes | Age | Enzymes | Phenotypes | Hydrolase | Medical screening | Mucolipidosis | Microencephaly | Arylsulfatase | Birth weight | Phosphotransferase | Mutation | Galactose
Journal Article
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 02/2016, Volume 6, Issue 1, p. 22131
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2011, Volume 155, Issue 1, pp. 238 - 267
Journal Article