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Guanidinoacetate Methyltransferase (Gamt) Deficiency: Outcomes In 48 Individuals And Recommendations For Diagnosis, Treatment And Monitoring
(Academic Press Inc Elsevier Science, 2014)
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as ...
Pretransplant Mobilization With Granulocyte Colony-Stimulating Factor Improves B-Cell Reconstitution by Lentiviral Vector Gene Therapy In Scid-X1 Mice
(Mary Ann Liebert, Inc, 2014)
Hematopoietic stem cell (HSC) gene therapy is a demonstrated effective treatment for X-linked severe combined immunodeficiency (SCID-X1), but B-cell reconstitution and function has been deficient in many of the gene therapy ...
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 126.96.36.199), was initially approved in Europe only for patients >= 4 years with BH4-responsive ...