Výsledky vyhledávání - "Sema kalkan-Ucar"

Akademický článek

Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.

Autor: Merve Yoldas Celik, Havva Yazıcı, Fehime Erdem, Ebru Canda, Banu Sarsik Kumbaraci, Ipek Kaplan Bulut, Sema Kalkan Ucar, Süleyman Caner Kabasakal, Mahmut Çoker

Publikováno v: The Journal of Pediatric Academy, Vol 3, Iss 3, Pp 132-134 (2022)

Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 mon

Externí odkaz: https://doaj.org/article/5656f136d71444228bb4d66f5f98fbb2

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Akademický článek

Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

Autor: Jérémie Gautheron, Lara Lima, Baris Akinci, Jamila Zammouri, Martine Auclair, Sema Kalkan Ucar, Samim Ozen, Canan Altay, Bridget E. Bax, Ivan Nemazanyy, Véronique Lenoir, Carina Prip-Buus, Cécile Acquaviva-Bourdain, Olivier Lascols, Bruno Fève, Corinne Vigouroux, Esther Noel, Isabelle Jéru

Publikováno v: BMC Medicine, Vol 20, Iss 1, Pp 1-21 (2022)

Abstract Background Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of the deoxyribonucleosides, thymidine and 2′-deoxyuridine, to thymine

Externí odkaz: https://doaj.org/article/f23ef112e8e2444f9f3eb4e619a1fccc

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Akademický článek

Two siblings with galactose mutarotase deficiency: Clinical differences

Autor: Havva Yazici, Ebru Canda, Yasemin Atik Altınok, Sema Kalkan Ucar, Mahmut Coker

Publikováno v: JIMD Reports, Vol 63, Iss 1, Pp 25-28 (2022)

Abstract Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported. We are presenti

Externí odkaz: https://doaj.org/article/d10fe2a58e244270ad6841a63b969a8b

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Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG

Autor: Merve Yoldas Celik, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Asude Durmaz, Selcan Zeybek, Ebru Canda, Sema Kalkan Ucar, Mahmut Coker

Publikováno v: Journal of Pediatric Endocrinology and Metabolism.

Objectives Congenital Glycosylation Disorders (CDG) are a large group of inherited metabolic diseases with multi-organ involvement. Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4829718b873df991015b19ab1c82219d
https://doi.org/10.1515/jpem-2022-0641

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl

Autor: Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Asude Durmaz, Ahmet Anik, Sema Kalkan Ucar, Mahmut Coker

Publikováno v: Journal of clinical research in pediatric endocrinology.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis; hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encounte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::896a54f1dcaccbeab43a928683e6e534
https://pubmed.ncbi.nlm.nih.gov/36598177

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Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey

Autor: Neslihan Onenli Mungan, Mahmut Coker, Gonca Kilic Yildirim, Ozlem Unal Uzun, Melike Ersoy, Ayse Cigdem Aktuglu Zeybek, Seda Gunes, Nur Arslan, Leyla Tümer, Mustafa Kilic, Tuba Eminoglu, Mehmet Gunduz, Mehmet Keskin, Deniz Kor, Ebru Canda, Derya Bulut, Sema Kalkan Ucar

Publikováno v: Molecular Genetics and Metabolism. 138:107252

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::12c9a79ed6d53f6e0e6d1004817deb84
https://doi.org/10.1016/j.ymgme.2022.107252

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Akademický článek

The Burden Endured by Caregivers of Patients With Morquio A Syndrome

Autor: Christian J. Hendriksz MD, Christine Lavery, Mahmut Coker MD, Sema Kalkan Ucar MD, Mohit Jain PhD, Lisa Bell PhD, Christina Lampe MD

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 2 (2014)

This international survey performed by direct personal interview or mail evaluated the global burden among primary caregivers of patients with Morquio A syndrome. Collected outcomes included self-reported time spent on caregiving, proportion of daily

Externí odkaz: https://doaj.org/article/cea0cfc121104bd9af0f1652ae8c81b1

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Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 11. BioMed Central

WOS: 000373180700001
PubMed ID: 27030250
Background: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee11699aa0554aba813c8b0edc0b88bb
https://doi.org/10.1186/s13023-016-0406-2

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