Literature DB >> 31755961

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Ji Zhou1, Jiuwei Li1, Sarah L Stenton2, Xiaotun Ren1, Shuai Gong1, Fang Fang1, Holger Prokisch2.   

Abstract

Entities:  

Year:  2020        PMID： 31755961     DOI： 10.1093/brain/awz375

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


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  6 in total

Review 1.  Skin Conditions and Movement Disorders: Hiding in Plain Sight.

Authors:  Kristina Kulcsarova; Janette Baloghova; Jan Necpal; Matej Skorvanek
Journal:  Mov Disord Clin Pract       Date:  2022-03-24

2.  A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.

Authors:  Gökçen Oz Tuncer; Nadide Cemre Randa; Seren Aydin; Ayşe Aksoy
Journal:  Mol Syndromol       Date:  2022-02-08

Review 3.  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 4.  Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Authors:  Carlos R Ferreira; Diego Martinelli; Nenad Blau
Journal:  Mol Genet Metab       Date:  2021-07-21       Impact factor: 4.204

5.  Cutaneous manifestations of NAXD deficiency - A case report.

Authors:  Mohammad Umair Malik; Haleema Nadir; Zita Maria Jessop; Jonathan James Cubitt
Journal:  Ann Med Surg (Lond)       Date:  2020-11-07

Review 6.  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
  6 in total

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