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Literature DB >> 32462209

NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Nurun Nahar Borna¹, Yoshihito Kishita¹, Jiro Abe², Takuro Furukawa³, Minako Ogawa-Tominaga⁴, Takuya Fushimi⁴, Atsuko Imai-Okazaki^1,5, Atsuhito Takeda⁶, Akira Ohtake^7,8, Kei Murayama⁴, Yasushi Okazaki^1,9.

Abstract

Entities: Disease Gene

Year: 2020 PMID： 32462209 DOI： 10.1093/brain/awaa130

Source DB: PubMed Journal: Brain ISSN： 0006-8950 Impact factor: 13.501

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2 in total

Review 1. NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

Authors: Purvi Majethia; Shivani Mishra; Lakshmi Priya Rao; Raghavendra Rao; Anju Shukla
Journal: Eur J Med Genet Date: 2021-06-20 Impact factor: 2.465

Review 2. NAD⁺ homeostasis in human health and disease.

Authors: Rubén Zapata-Pérez; Ronald J A Wanders; Clara D M van Karnebeek; Riekelt H Houtkooper
Journal: EMBO Mol Med Date: 2021-05-27 Impact factor: 12.137

2 in total

NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Review 1. NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

Review 2. NAD+ homeostasis in human health and disease.

Review 2. NAD⁺ homeostasis in human health and disease.