Creatine metabolism in patients with urea cycle disorders

Autor: Nicola Longo, Jean-Leon Chong, Marzia Pasquali, Filippo Ingoglia

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100791-(2021)
Molecular Genetics and Metabolism Reports

The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49bc8bafb1f878f5faa68759920ec6a
https://doi.org/10.1016/j.ymgmr.2021.100791

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A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities.

Autor: Abbott J; Atwal Clinic: Genomic & Personalized Medicine, 214 Brazilian Ave, Suite 230, Palm Beach, FL 33480, USA., Senzatimore M; Atwal Clinic: Genomic & Personalized Medicine, 214 Brazilian Ave, Suite 230, Palm Beach, FL 33480, USA., Atwal P; Atwal Clinic: Genomic & Personalized Medicine, 214 Brazilian Ave, Suite 230, Palm Beach, FL 33480, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Sep 09; Vol. 33 (Suppl 1), pp. 100916. Date of Electronic Publication: 2022 Sep 09 (Print Publication: 2022).

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.

Autor: Feigenbaum A; Department of Pediatrics and Biochemical Genetics, Rady Children's Hospital-San Diego, University of California San Diego, 3020 Children's Way #5031, San Diego, CA 92123, USA., Lamale-Smith L; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Diego, 9300 Campus Point Drive, #7433, San Diego, CA 92037, USA., Weinstein L; Department of Anesthesiology, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Jul 12; Vol. 33 (Suppl 1), pp. 100894. Date of Electronic Publication: 2022 Jul 12 (Print Publication: 2022).

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.

Autor: Bösch F; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland., Landolt MA; Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland., Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Fernandez S; Department of Paediatric Gastroenterology and Nutrition, University Children's Hospital Basel, Basel, Switzerland., Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Gautschi M; Department of Pediatrics and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Horvath C; Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland., Karall D; Medical University Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., Lampis D; Department of Paediatric Gastroenterology and Nutrition, University Children's Hospital Basel, Basel, Switzerland., Rohrbach M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Scholl-Bürgi S; Medical University Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., Szinnai G; Department of Paediatric Endocrinology and Diabetology, University Children's Hospital Basel, Basel, Switzerland., Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Paediatric Endocrinology and Diabetology, University Children's Hospital Basel, Basel, Switzerland.; Department of Paediatrics, LKH Bregenz, Bregenz, Austria.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 May 06; Vol. 31, pp. 100876. Date of Electronic Publication: 2022 May 06 (Print Publication: 2022).