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Miyake, Christina Y; Lay, Erica J; Soler-Alfonso, Claudia; Glinton, Kevin E; Houck, Kimberly M; Tosur, Mustafa; Moran, Nancy E; Stephens, Sara B; Scaglia, Fernando; Howard, Taylor S; Kim, Jeffrey J; Pham, Tam Dam; Valdes, Santiago O; Li, Na; Murali, Chaya N; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M; Kannankeril, Prince J; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A; Ehsan, Saad A; Azamian, Mahshid S; Lalani, Seema R
Genetics in medicine, 04/2023, Letnik: 25, Številka: 4Journal Article
TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to define the natural history of TDD. Data were collected from an ongoing natural history study of patients with TDD enrolled between February 2019 and May 2022. Data were obtained through phone or video based parent interviews and medical record review. Data were collected from 73 patients (59% male) from 57 unrelated families living in 16 different countries. The median age of participants at the time of data collection was 9.0 years (interquartile range = 5.3-15.9 years, range = fetal to 31.8 years). A total of 24 different TANGO2 alleles were observed. Patients showed normal development in early infancy, with progressive delay in developmental milestones thereafter. Symptoms included ataxia, dystonia, and speech difficulties, typically starting between the ages of 1 to 3 years. A total of 46/71 (65%) patients suffered metabolic crises, and of those, 30 (65%) developed cardiac crises. Metabolic crises were significantly decreased after the initiation of B-complex or multivitamin supplementation. We provide the most comprehensive review of natural history of TDD and important observational data suggesting that B-complex or multivitamins may prevent metabolic crises.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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