Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
about
Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisThe genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisNewborn screening for lysosomal storage diseasesEnzymatic Screening and Diagnosis of Lysosomal Storage DiseasesExpanded newborn screening by mass spectrometry: New tests, future perspectives.Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.Perspective on innovative therapies for globoid cell leukodystrophy.Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.Fifty years of newborn screening.
P2860
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P2860
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
@en
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
@nl
type
label
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
@en
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
@nl
prefLabel
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
@en
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
@nl
P2093
P2860
P356
P1476
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
@en
P2093
Devin Oglesbee
Dietrich Matern
Silvia Tortorelli
P2860
P304
P356
10.1002/DDRR.1117
P577
2013-01-01T00:00:00Z