Výsledky vyhledávání - "Christina G. Tise MD, PhD"

Akademický článek

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Autor: Christina G. Tise MD, PhD, Melinda J. Palma MD, Kristina P. Cusmano-Ozog MD, Dena R. Matalon MD

Publikováno v: Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023)

Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including global developmental delay (GDD), intellectual disability (ID), seizures, hypotonia, and beh

Externí odkaz: https://doaj.org/article/92727acaaf734836b314de59c2c78924

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Akademický článek

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome

Autor: Christina G. Tise MD, PhD, Dena R. Matalon MD, Melanie A. Manning MD, Heather M. Byers MD, Monica Grover MBBS

Publikováno v: Journal of Investigative Medicine High Impact Case Reports, Vol 10 (2022)

Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and di

Externí odkaz: https://doaj.org/article/ba92ac4751da43b1b5235d1e07e9f189

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