Newborn screening for lysosomal storage disorders and other neuronopathic conditions. - Wikidata - wikimedia - TriplyDB

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

http://www.wikidata.org/entity/Q37518525

about

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis Newborn screening for lysosomal storage diseases Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases Expanded 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.

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Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

http://www.wikidata.org/entity/Q37518525

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on January 2013

@en

vedecký článok

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vetenskaplig artikel

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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.

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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

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Developmental Disabilities Research Reviews

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Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

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Devin Oglesbee

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Dietrich Matern

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Silvia Tortorelli

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P2860

Newborn screening: toward a uniform screening panel and system

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients.

Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy.

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.

The impact of false-positive newborn screening results on families: a qualitative study.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

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247-253

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scholarly article

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10.1002/DDRR.1117

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3

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17

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2013-01-01T00:00:00Z

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