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1.
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.
Hepatology
; 61(1): 260-7, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24867799
2.
Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.
Mol Genet Metab
; 109(2): 201-7, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23566439
3.
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.
J Inherit Metab Dis
; 36(2): 247-55, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22991166
4.
Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.
Mol Genet Metab
; 107(3): 501-7, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22926196
5.
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
Mol Genet Metab
; 107(4): 705-10, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23084433
6.
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
Orphanet J Rare Dis
; 7: 22, 2012 Apr 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-22524701
7.
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
Orphanet J Rare Dis
; 6: 55, 2011 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-21831279
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