LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
about
Renal manifestations of primary mitochondrial disorders.Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.The presence of anaemia negatively influences survival in patients with POLG disease.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Phenotypic heterogeneity of MELASPatient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
P2860
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P2860
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
description
2016 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
scientific journal article
@en
vedecký článok (publikovaný 2016/01/01)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/01/01)
@nl
наукова стаття, опублікована в січні 2016
@uk
مقالة علمية (نشرت عام 2016)
@ar
name
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@ast
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
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LARS2 Variants Associated with ...... nemia, and Multisystem Failure
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type
label
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@ast
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@en
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@nl
prefLabel
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@ast
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@en
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@nl
P2093
P2860
P50
P356
P1476
LARS2 Variants Associated with ...... nemia, and Multisystem Failure
@en
P2093
Carolyn M Sue
Dean R Campagna
John Christodoulou
Joëlle Rudinger-Thirion
Juliana Teo
Klaus Schmitz-Abe
Lisa G Riley
Magali Frugier
Mark D Fleming
Susan Arbuckle
P2860
P356
10.1007/8904_2015_515
P577
2016-01-01T00:00:00Z