Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

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http://www.wikidata.org/entity/Q36066957
Mechanism and regulation of the nonsense-mediated decay pathwayMitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain FunctionNovel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective studyDisruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver FailurePediatric acute liver failure of undetermined cause: A research workshop.Recent advances in liver transplantation for metabolic disease.Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.NBAS mutations cause acute liver failure: when acetaminophen is not a culpritNeuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
P2860

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Item
http://www.wikidata.org/entity/Q36066957
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
@zh-cn
name
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
@ast
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
@en
type
label
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
@ast
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
@en
prefLabel
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
@ast
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2015.05.009
P407
P433
P478
P50
P577
P698
P932