Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Kristina P. Cusmano-Ozog"'
1
Akademický článek
Recent tPA administration can cause pseudo‐hyperargininemia and may mimic arginase deficiency or arginine supplementation
Autor: Kristina P. Cusmano‐Ozog, Alicia K. Renck, Christina G. Tise
Publikováno v: JIMD Reports, Vol 63, Iss 6, Pp 563-567 (2022)
Abstract Individuals suspected of or diagnosed with a rare disorder, including inherited metabolic disorders (IMD), often need frequent and/or urgent vascular access for blood draws and treatment, making central indwelling catheters commonly used dev
Externí odkaz: https://doaj.org/article/7a0658fdb1104d8b9fa061309e3a0ec5
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2
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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3
Akademický článek
Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis
Autor: Donna B. Raval, Kristina P. Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H. Kofman, Brendan Lanpher, Natalie Hauser, Debra S. Regier
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 8-10 (2017)
Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by
Externí odkaz: https://doaj.org/article/2866952a1b8547e49eb616595ed6de50
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4
Akademický článek
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
Autor: Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high do
Externí odkaz: https://doaj.org/article/8721ed92ba104616bb40317896b771f5
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8
Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
Autor: Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog, Dena R. Matalon
Publikováno v: Journal of Investigative Medicine High Impact Case Reports. 11:232470962311544
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://explore.openaire.eu/search/publication?articleId=doi_________::016e957302ec7b9a9aa305264df9b64f
https://doi.org/10.1177/23247096231154438
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Plný text Recenzováno Digitální knihovna AV ČR
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