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The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Antihypertensive Effects of Artemisia scoparia Waldst in Spontaneously Hypertensive Rats and Identification of Angiotensin I Converting Enzyme Inhibitors.Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsGlucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patientsComparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.Expanding rare disease drug trials based on shared molecular etiologyGene therapy approaches for lysosomal storage disease: next-generation treatment.Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats.Newborn screening for lysosomal storage disorders in hungary.A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.Diagnosis of the mucopolysaccharidoses.Emerging uses for pediatric hematopoietic stem cells.Treatment options for lysosomal storage disorders: developing insights.The use of mass spectrometry to analyze dried blood spots.Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.Testing the feasibility of fully automated chip-based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 10 February 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Newborn screening for lysosomal storage disorders.
@en
Newborn screening for lysosomal storage disorders.
@nl
type
label
Newborn screening for lysosomal storage disorders.
@en
Newborn screening for lysosomal storage disorders.
@nl
prefLabel
Newborn screening for lysosomal storage disorders.
@en
Newborn screening for lysosomal storage disorders.
@nl
P2093
P2860
P356
P1476
Newborn screening for lysosomal storage disorders.
@en
P2093
Fumio Endo
Kimitoshi Nakamura
Kiyoko Hattori
P2860
P356
10.1002/AJMG.C.30291
P577
2011-02-10T00:00:00Z