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

Autor: Manor J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Parnes M; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Mehta VP; Department of Pathology, Texas Children's Hospital, Houston, TX, USA., Adesina AM; Department of Pathology, Texas Children's Hospital, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. e36-e40.

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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.

Autor: Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Herman I; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, 13110, Kuwait., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Mehta VP; Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA., Mohila CA; Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA., Abid F; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA., Lotze TE; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA., Pehlivan D; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Adesina AM; Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA., Lupski JR; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Oct; Vol. 8 (10), pp. 2052-2058. Date of Electronic Publication: 2021 Sep 15.

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