المؤلفون: Tarçın, Gürkan^{Aff1, IDs00431023052218_cor1}, Ahmadzada, Saffa, Saygılı, Seha, Kaya, Ayşem, Aktuğlu Zeybek, Ayşe Çiğdem, Ercan, Oya

المصدر: European Journal of Pediatrics. 182(12):5447-5453

المؤلفون: Gökçen Kartal Öztürk, Ayşe Korkmaz, Hasan Tolga Çelik, Şule Yiğit, Murat Yurdakök, Turgay Coşkun

المصدر: Journal of Pediatric Research, Vol 11, Iss 1, Pp 17-24 (2024)

مصطلحات موضوعية: indirect hyperbilirubinemia, inherited metabolic diseases, metabolic acidosis, hyperammonemia, organic acidemia, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://jpedres.org/archives/archive-detail/article-preview/why-nfants-with-some-nherited-metabolic-diseases-d/64760; https://doaj.org/toc/2147-9445; https://doaj.org/toc/2587-2478

URL الوصول: https://doaj.org/article/fdd3ff425d794368a8b1b9fc7d68b4ce

المؤلفون: 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

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 181-190 (2023)

مصطلحات موضوعية: AAV44.9, propionic acidemia, systemic gene therapy, mouse model, genome editing, organic acidemia, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000980; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/c35059820a4742ec9fa25d51c2cda8e8

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المؤلفون: Strauss, Kevin A.^Aff5

المساهمون: Lucking, Steven E., editor^Aff1, Maffei, Frank A., editor^Aff2, Tamburro, Robert F., editor^Aff3, Zaritsky, Arno, editor^Aff4

المصدر: Pediatric Critical Care : Text and Study Guide. :1351-1396

المؤلفون: Noha Elserafy, Sue Thompson, Troy Dalkeith, Michael Stormon, Gordon Thomas, Albert Shun, Janine Sawyer, Shanti Balasubramanian, Kaustuv Bhattacharya, Nadia Badawi, Carolyn Ellaway

المصدر: JIMD Reports, Vol 60, Iss 1, Pp 88-95 (2021)

مصطلحات موضوعية: clinical outcome, inborn errors of metabolism, liver transplantation, metabolic management pre‐ and post‐liver transplantation, organic acidemia, survival, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/f05824fbcb964f8ba17bc941adabc2e8

المؤلفون: 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

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Organic acidemia, Methylmalonic acidemia, Preimplantation diagnosis, Mutation, missense, Metabolic diseases, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/72cdef3074834db390b6ee2b682e9454

المؤلفون: Shereen M. Reda, Heba S. Elabd, Rasha H. El-Owaidy, Ahmad M. Salah El Din, Mahmoud A. Hassan

المصدر: Egyptian Journal of Medical Human Genetics, Vol 20, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Organic acidemia, Pediatrics, Adaptive, Infections, Screening, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s43042-019-0014-5; https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/7f51b902e0d242bd8e427f62f36e430f

المؤلفون: Tanacan A, Gurbuz BB, Aydin E, Erden M, Coskun T, Beksac MS

المصدر: Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 29-34 (2019)

مصطلحات موضوعية: invasive prenatal diagnostic test (ipndt), organic acidemia (oa), prenatal diagnosis (pnd), pregnancy outcome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/355f42c810f0412bb1e34957d1986de3

المؤلفون: Zayed, Hatem^Aff1, El Khayat, Hamed, Tomoum, Hoda, Khalifa, Ola, Siddiq, Ehab, Mohammad, Shaimaa A., Gamal, Radwa, Shi, Zumin, Mosailhy, Ahmed, Zaki, Osama K.^Aff2

المصدر: Metabolic Brain Disease. 34(4):1231-1241