Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients
Miyake C, Lay E, Soler-Alfonso C, Glinton K, Houck K, Tosur M, Moran N, Stephens S, Scaglia F, Howard T, Kim J, Pham T, Valdes S, Li N, Murali C, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson C, Kannankeril P, Baxter S, Singer-Berk M, Wood J, Mackenzie S, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris S, Ehsan S, Azamian M, Lalani S. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genetics In Medicine 2022, 25: 100352. PMID: 36473599, PMCID: PMC10306319, DOI: 10.1016/j.gim.2022.11.020.Peer-Reviewed Original ResearchConceptsMetabolic crisisNatural historyCardiac crisisDeficiency disordersOngoing natural history studyMedical record reviewNatural history studiesAutosomal recessive diseaseMedian ageMultivitamin supplementationRecord reviewIntermittent ataxiaNeurodevelopmental delayEarly infancyPatientsBaseline assessmentSpeech difficultiesB complexDevelopmental milestonesRecessive diseaseParent interviewsUnrelated familiesAtaxiaHistory studiesProgressive delay
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