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Journal of the American Academy of Dermatology, ISSN 0190-9622, 08/2017, Volume 77, Issue 2, pp. 268 - 273.e6
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 09/2018, Volume 19, Issue 1, pp. 162 - 162
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 | Index Medicus
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2018, Volume 19, Issue 1, pp. 178 - 178
Background: Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the... 
GBA gene | Glucocerebrosidase | β-Glucosidase | Adult Gaucher disease | Chitotriosidase | Indian population | Leu444Pro carrier frequency | GLUCOCEREBROSIDASE GENE | MULTICENTER | ENZYME | beta-Glucosidase | GENETICS & HEREDITY | LYSOSOMAL STORAGE DISORDERS | Hepatomegaly - pathology | Exons | Hepatomegaly - enzymology | Humans | Lysosomes - enzymology | Male | Gaucher Disease - pathology | Splenomegaly - pathology | beta-Glucosidase - chemistry | Splenomegaly - diagnosis | DNA Mutational Analysis | beta-Glucosidase - genetics | Base Sequence | beta-Glucosidase - metabolism | Adult | Female | Lysosomes - pathology | Child | Hexosaminidases - blood | Carrier State | Gaucher Disease - enzymology | Severity of Illness Index | Amino Acid Sequence | Gene Expression | Protein Structure, Secondary | Splenomegaly - genetics | Gene Frequency | Hepatomegaly - genetics | Hexosaminidases - genetics | India | Gaucher Disease - genetics | Alleles | Hepatomegaly - diagnosis | Splenomegaly - enzymology | Mutation | Gaucher Disease - diagnosis | Glucosylceramides - metabolism | Enzymes | Genetic susceptibility | Research | Rare diseases | Gene mutations | Genetic research | Hydrolases | Genetic aspects | Nucleotide sequencing | Health aspects | Methods | DNA sequencing | Gaucher's disease | Splenomegaly | Biochemical analysis | Parkinsons disease | Lysosomes | Homology | Leukocytes | Patients | Population genetics | Polymerase chain reaction | Genetic counseling | Restriction fragment length polymorphism | Enzymatic activity | Gene frequency | Jews | Population | Genetics | Glucosylceramidase | Children | Protein structure | Index Medicus
Journal Article
Molecular Therapy, ISSN 1525-0016, 03/2015, Volume 23, Issue 3, pp. 414 - 422
Journal Article
Journal Article
Human Gene Therapy, ISSN 1043-0342, 06/2017, Volume 28, Issue 6, pp. 51 - 522
GM2 gangliosidoses, including Tay–Sachs disease and Sandhoff disease, are lysosomal storage disorders caused by deficiencies in β-N-acetylhexosaminidase (Hex).... 
Research Articles | hexosaminidase | gene therapy | adeno-associated virus | Tay-Sachs disease | intracranial delivery | AAV | LONG-TERM | MOUSE-BRAIN | MEDICINE, RESEARCH & EXPERIMENTAL | SINGLE INJECTION | SANDHOFF-DISEASE | VECTOR | DELIVERY | FELINE MODEL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | NERVOUS-SYSTEM DISEASE | GENE-THERAPY | REDUCES LYSOSOMAL STORAGE | Dependovirus - genetics | Neurons - pathology | Thalamus - metabolism | White Matter - metabolism | Injections, Intraventricular | Macaca fascicularis | Genetic Vectors - adverse effects | Male | Thalamus - pathology | Gangliosidoses, GM2 - pathology | Necrosis - pathology | Protein Subunits - metabolism | Apathy | Gray Matter - metabolism | Female | Neurons - metabolism | beta-N-Acetylhexosaminidases - genetics | Transgenes | Gangliosidoses, GM2 - genetics | Dyskinesias - genetics | Disease Models, Animal | Protein Subunits - genetics | Gangliosidoses, GM2 - therapy | Gene Expression | Dependovirus - metabolism | Genetic Vectors - chemistry | beta-N-Acetylhexosaminidases - metabolism | Dyskinesias - pathology | Genetic Vectors - metabolism | Necrosis - metabolism | Dyskinesias - etiology | Dyskinesias - metabolism | White Matter - pathology | Protein Subunits - adverse effects | Animals | Necrosis - etiology | Gray Matter - pathology | Necrosis - genetics | beta-N-Acetylhexosaminidases - adverse effects | Gangliosidoses, GM2 - metabolism | Genetic Therapy - methods | Neuroimaging | Brain | Hex protein | Central nervous system | Lysosomal storage diseases | Ventricles (cerebral) | Monkeys | Substantia grisea | Necrosis | Proteins | Infusion | Neurotoxicity | Histopathology | Coding | Ataxia | Thalamus | Safety | Lesions | Leukocytes (eosinophilic) | Abnormalities | Injection | Magnetic resonance imaging | Sheep | Ventricle | Index Medicus
Journal Article
Current Gene Therapy, ISSN 1566-5232, 2018, Volume 18, Issue 2, pp. 68 - 89
Journal Article
American journal of respiratory and critical care medicine, ISSN 1073-449X, 2016, Volume 193, Issue 2, pp. 131 - 142
Journal Article
Journal Article