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Toplam kayıt 154, listelenen: 151-154
Efficacy, Safety And Population Pharmacokinetics Of Sapropterin In Pku Patients < 4 Years: Results From The Spark Open-Label, Multicentre, Randomized Phase Iiib Trial
(BioMed Central, 2017)
Background: Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients >= 4 years with BH4-responsive ...
A Molecular and Clinical Study of Larsen Syndrome Caused by Mutations in FLNB
(BMJ, 2007)
Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or ...
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ...