Concepedia

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS

Frederico S. Regateiro, Serkan Belkaya, Nélson Neves, Sandra Roberta G. Ferreira, Paula Silvestre, Sónia Lemos, Margarida Venâncio, Jean‐Laurent Casanova, Isabel Gonçalves, Emmanuelle Jouanguy,

European Journal of Medical Genetics · 2017 · 26 citations · 11 references

DOI

Concepts

References

11

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Acute liver failure in children: The first 348 patients in the pediatric acute liver failure study group

Robert H. Squires, Benjamin L. Shneider, John C. Bucuvalas et al. · The Journal of Pediatrics · 2006 · 860 citations

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

Tobias B. Haack, Christian Staufner, Marlies Köpke et al. · The American Journal of Human Genetics · 2015 · 133 citations · Full text

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Identification of the Neuroblastoma-amplified Gene Product as a Component of the Syntaxin 18 Complex Implicated in Golgi-to-Endoplasmic Reticulum Retrograde Transport

Takehiro Aoki, Sarah Ichimura, Ayano Itoh et al. · Molecular Biology of the Cell · 2009 · 124 citations

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Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Christian Staufner, Tobias B. Haack, Marlies Köpke et al. · Journal of Inherited Metabolic Disease · 2015 · 111 citations

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