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The New England Journal of Medicine, ISSN 0028-4793, 09/2015, Volume 373, Issue 11, pp. 1010 - 1020
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S28 - S28
Journal Article
Pediatric Neurology, ISSN 0887-8994, 04/2019, Volume 93, pp. 43 - 49
Congenital hypomyelinating neuropathy is a rare form of hereditary peripheral neuropathy characterized by nonprogressive weakness, areflexia, hypotonia,... 
CNTNAP1 | Congenital hypotonia | Congenital hypomyelinating neuropathy | Cranial nerve palsies | Seizures | CLINICAL NEUROLOGY | CONTACTIN | GENE | MUTATION | JUNCTIONS | CASPR | PEDIATRICS | ARTHROGRYPOSIS MULTIPLEX CONGENITA | Medicine, Experimental | Medical research | Medical colleges | Genetic disorders | Seizures (Medicine) | Mortality
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2012, Volume 105, Issue 2, pp. S32 - S32
Journal Article
Texas Heart Institute Journal, ISSN 0730-2347, 12/2017, Volume 44, Issue 6, pp. 420 - 423
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S102 - S103
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2016, Volume 9, pp. 25 - 28
Gaucher disease type 1 is an autosomal recessive disorder caused by deficient activity of the lysosomal enzyme acid β-glucosidase resulting in accumulation of... 
Imiglucerase | Gaucher disease type 1 | Eliglustat | Velaglucerase alfa | Composite endpoint | Non-inferiority trial | EFFICACY | TARTRATE | SAFETY | OPEN-LABEL | PHASE-2 | NON-INFERIORITY | THERAPY | GENETICS & HEREDITY | ORAL ELIGLUSTAT
Journal Article
Biologics: Targets and Therapy, ISSN 1177-5475, 2008, Volume 2, Issue 2, pp. 311 - 320
Presents a comprehensive overview of Mucopolysaccharidosis type II (MPS II, Hunter syndrome), which is a heterogeneous, progressive X-linked recessively... 
Mucopolysaccharidosis type II | Hunter syndrome | Enzyme replacement therapy | Genetic disorders | Treatment | Heparan sulfate | Enzymes | Mutation | enzyme replacement therapy | Review | mucopolysaccharidosis type II
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2012, Volume 106, Issue 4, pp. 482 - 484
Journal Article
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