Zobrazeno 1 - 10
of 521
pro vyhledávání: '"organic acidemia"'
Autor:
Gökçen Kartal Öztürk, Ayşe Korkmaz, Hasan Tolga Çelik, Şule Yiğit, Murat Yurdakök, Turgay Coşkun
Publikováno v:
Journal of Pediatric Research, Vol 11, Iss 1, Pp 17-24 (2024)
Aim: Although indirect hyperbilirubinemia is the most common neonatal problem in term newborns, it is rarely observed in newborns with some inherited metabolic diseases. Therefore, we aimed to compare the frequency of indirect hyperbilirubinemia in n
Externí odkaz:
https://doaj.org/article/fdd3ff425d794368a8b1b9fc7d68b4ce
Autor:
Randy J. Chandler, Giovanni Di Pasquale, Eun-Young Choi, David Chang, Stephanie N. Smith, Jennifer L. Sloan, Victoria Hoffmann, Lina Li, John A. Chiorini, Charles P. Venditti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 181-190 (2023)
Propionic acidemia (PA) is rare autosomal recessive metabolic disorder caused by defects in the mitochondrially localized enzyme propionyl-coenzyme A (CoA) carboxylase. Patients with PA can suffer from lethal metabolic decompensation and cardiomyopat
Externí odkaz:
https://doaj.org/article/c35059820a4742ec9fa25d51c2cda8e8
Akademický článek
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Autor:
Noha Elserafy, Sue Thompson, Troy Dalkeith, Michael Stormon, Gordon Thomas, Albert Shun, Janine Sawyer, Shanti Balasubramanian, Kaustuv Bhattacharya, Nadia Badawi, Carolyn Ellaway
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 88-95 (2021)
Abstract Background Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (L
Externí odkaz:
https://doaj.org/article/f05824fbcb964f8ba17bc941adabc2e8
Autor:
Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is impaired in this
Externí odkaz:
https://doaj.org/article/72cdef3074834db390b6ee2b682e9454
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Patients with methylmalonic acidemias (MMAs) and propionic acidemias (PAs) were noticed to suffer recurrent infections with high morbidity and mortality during infections. Neutropenia, impaired phagocytic chemotaxis, low levels of
Externí odkaz:
https://doaj.org/article/7f51b902e0d242bd8e427f62f36e430f
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 29-34 (2019)
The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for
Externí odkaz:
https://doaj.org/article/355f42c810f0412bb1e34957d1986de3
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 2, Pp SC01-SC05 (2021)
Introduction: Inactivity or diminished activity of an enzyme Methylmalonyl-CoA mutase (a Cobalamin dependent) enzyme causes inborn error of metabolism named Methylmalonic Acidemia/Aciduria (MMA). Liquid Chromatography-tandem Mass Spectrometry (LC
Externí odkaz:
https://doaj.org/article/7c7617b51c8b4939b59e204da8a0ba73
Akademický článek
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Akademický článek
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