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Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 08/2019
Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency, resulting in high blood and brain Phenylalanine (Phe) concentrations that can... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S144 - S144
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 2015, Volume 114, Issue 2, pp. 178 - 185
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S91 - S92
Journal Article
Heart, Lung and Circulation, ISSN 1443-9506, 11/2018, Volume 27, Issue 11, pp. e113 - e114
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 06/2016, Volume 28, pp. 185 - 186
Mutations in the glucocerebrosidase (GBA1) gene, the most common genetic contributor to Parkinson's disease (PD), are associated with an increased risk of PD... 
Biomarker | Gaucher | Glucocerebrosidase | Parkinson's disease | GBA enzyme activity | GBA | MULTICENTER | NEUROSCIENCES | CLINICAL NEUROLOGY | Glucosylceramidase - genetics | Humans | Middle Aged | Parkinson Disease - enzymology | Female | Heterozygote | Male | Aged | Glucosylceramidase - metabolism | Mutation | Parkinson Disease - genetics | Enzymes | Genetic aspects | Medical colleges
Journal Article
Pediatric endocrinology reviews : PER, ISSN 1565-4753, 2013, Volume 11, pp. 64 - 67
Commercial treatment for a lysosomal storage disorder (LSD; i.e., Gaucher disease) became available in 1991 as a consequence of collaborative efforts between... 
Orphan Drug Production - methods | Biotechnology - methods | Enzyme Replacement Therapy - methods | Lysosomal Storage Diseases - drug therapy | Humans
Journal Article
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 755 - 755
Abstract Gaucher disease (GD) is a lysosomal storage disorder due to an inherited deficiency of acid β-glucosidase (GBA) that leads to the accumulation of two... 
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2018, Volume 16, pp. 31 - 35
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid... 
Long-term follow- up | Cognitive function | Neurocognitive function | Psychometric test | DIAGNOSIS | Long-term follow-up | DISEASE | ABILITY | GENETICS & HEREDITY | ISOLEUCINE METABOLISM | MHBD DEFICIENCY | INBORN ERROR
Journal Article
Irish Journal of Medical Science (1971 -), ISSN 0021-1265, 11/2018, Volume 187, Issue 4, pp. 1073 - 1076
Journal Article
Pediatric Health, Medicine and Therapeutics, ISSN 1179-9927, 01/2017, Volume 8, p. 73
Gaucher disease (GD) is a heritable storage disorder caused by functional defects of the lysosomal acid [beta]-glucosidase and the accumulation of... 
Treatment outcome | Patient outcomes | Analysis | Research | Drug therapy | Gaucher's disease
Journal Article
BLOOD CELLS MOLECULES AND DISEASES, ISSN 1079-9796, 06/2017, Volume 65, pp. 71 - 72
Journal Article
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