Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient-Reference-Cited by-同舟云学术

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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient

Published:2022-03-01 Issue:5 Volume:145 Page:e36-e40
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Manor Joshua¹²^ORCID,Calame Daniel G.¹²³^ORCID,Gijavanekar Charul¹,Tran Alyssa¹²,Fatih Jawid M.¹,Lalani Seema R.¹²,Mizerik Elizabeth¹²,Parnes Mered²³,Mehta Vidya P.⁴,Adesina Adekunle M.⁴,Lupski James R.¹²⁵⁶,Scaglia Fernando¹²⁷,Elsea Sarah H.¹

Affiliation:

1. Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, USA

2. Texas Children’s Hospital , Houston, TX, USA

3. Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine , Houston, TX, USA

4. Department of Pathology, Texas Children’s Hospital , Houston, TX, USA

5. Human Genome Sequencing Center, Baylor College of Medicine , Houston, TX, USA

6. Department of Pediatrics, Baylor College of Medicine , Houston, TX, USA

7. Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital , Sha Tin, Hong Kong SAR

Funder

U.S. National Human Genome Research Institute

National Heart Lung and Blood Institute

Baylor-Hopkins Center for Mendelian Genomics

U.S. National Institute of Neurological Disorders and Stroke

U.S. National Cancer Institute

Muscular Dystrophy Association

MDA Developmental

NINDS

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac065/43520484/awac065.pdf

Reference10 articles.

1. Metabolite repair enzymes control metabolic damage in glycolysis;Bommer;Trends Biochem Sci,2020

2. NAD(P)HX repair deficiency causes central metabolic perturbations in yeast and human cells;Becker-Kettern;FEBS J,2018

3. Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair;Marbaix;J Biol Chem,2011

4. NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses;Van Bergen;Brain,2019

5. NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses;Zhou;Brain,2020

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transient response to high‐dose niacin therapy in a patient with NAXE deficiency;JIMD Reports;2024-05-09

2. Progressive encephalopathy after routine 4‐month immunizations in a patient with NAXD genetic variant;American Journal of Medical Genetics Part A;2024-01-12

3. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders;Neurotherapeutics;2024-01

4. Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification;Current Protocols;2023-04

5. Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma;International Journal of Molecular Sciences;2023-02-10

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