Výsledky vyhledávání - "Özlem Ünal Uzun"

Difficult to think about but easy to treat: scurvy

Autor: Aynur Küçükçongar Yavaş, Ayşenur Engin Erdal, Ayşegül Neşe Çıtak Kurt, Tuba Kurt, İlknur Cankurt, Özlem Ünal Uzun

Publikováno v: Journal of Pediatric Endocrinology and Metabolism.

Objectives Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features of scurvy lead to frequent misdiagnoses, as th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::33d7e3e0c97806453b253f1ae475e3c9
https://doi.org/10.1515/jpem-2023-0129

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Two cases of MEGDHEL syndrome diagnosed with hyperammonemia

Autor: Gülhan Karakaya Molla, Mehtap Kağnıcı, Ayla Günlemez, Yaşar Yeni, Özlem Ünal Uzun

Publikováno v: Journal of Pediatric Endocrinology and Metabolism.

Objectives MEGDHEL [3-methylglutaconic aciduria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like disease (L)] syndrome is an autosomal recessive disorder caused by mutations in the serine active site-containing protein 1 (SERA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9745d1f081fb243ff0120f17a4aa2dff
https://doi.org/10.1515/jpem-2022-0418

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Evaluation of nutritional status in pediatric patients diagnosed with Covid-19 infection

Autor: Nevra Koç, Gülsüm İclal Bayhan, Burcu Özen Yeşil, Gülhan Karakaya Molla, Özlem Ünal Uzun

Publikováno v: Clinical Nutrition Espen

Summary Aim The aim of this study was to evaluate the nutritional status, the nutritional effect on the risk of infection and the severity of the disease, and the contribution of nutrition to the course of the infection in pediatric patients diagnose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cabab60e1655ec29dc715aac8c793a6c
https://doi.org/10.1016/j.clnesp.2021.04.022

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Molecular and clinical findings of Turkish patients with hereditary fructose intolerance

Autor: Eda Özaydin, Serdar Ceylaner, Özlem Ünal-Uzun, Çiğdem Seher Kasapkara, Mehmet Gündüz, Nevra Koç

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 34:1017-1022

Objectives Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2f3ff38304b7fab643881655deb37c
https://doi.org/10.1515/jpem-2021-0303

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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers

Autor: Özlem Ünal Uzun, Nurcan Cengiz, Büşra Çavdarlı, Umut Bayrakçı, Saba Kiremitçi, Aynur Küçükçongar Yavaş

Publikováno v: Pediatric Nephrology. 36:2055-2058

1. What would be the next diagnostics for the diagnosis? A. Kidney biopsy: Kidney biopsy showed diffuse and severe vacuolization of glomerular and tubular epithelial cells. Light microscopic examination of kidney biopsy revealed 19 glomeruli showing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8abfe0c99b8d68dfdd5074c854a1a6
https://doi.org/10.1007/s00467-020-04901-z

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Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises

Autor: Fatma Selda Bulbul, Pelin Teke Kisa, Engin Kose, Nur Arslan, Özlem Ünal Uzun, Mehmet Gündüz

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 28(8)

Objectives This study aimed to investigate the frequency and status of depression and anxiety among mothers of children with inborn errors of metabolism (IEM) who were on a restricted diet and previously experienced metabolic crises. Methods This cro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e45907d7ee1ce02c5cbd04d2db5401f0
https://pubmed.ncbi.nlm.nih.gov/34620546

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Malonyl coenzyme A decarboxylase deficiency with a novel mutation

Autor: Ahmet Cevdet Ceylan, Ibrahim Ilker Cetin, Burcu Civelek Ürey, Özlem Ünal Uzun, Çiğdem Seher Kasapkara

Publikováno v: Cardiology in the young. 31(9)

Malonyl-CoA, a product of acetyl-CoA carboxylase is a metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it is involved in the de novo fatty acid synthesis and elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4bb51363f41cbae5596c39550f2d32
https://pubmed.ncbi.nlm.nih.gov/33745485

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A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis

Autor: Özlem Ünal Uzun, Mehmet Gündüz, Ayşen Uncuoğlu, Aynur Küçükçongar Yavaş, Büşra Çavdarlı

BackgroundProgressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54e0a4cf468ab4370742f96ac8a7362
https://hdl.handle.net/20.500.12619/71380

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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions

Autor: Umut Selda Bayrakci, Büşra Çavdarlı, Saba Kiremitci, Nurcan Cengiz, Özlem Ünal Uzun, Aynur Küçükçongar Yavaş

Publikováno v: Pediatric Nephrology. 36:2053-2054

A 6-year-old patient was admitted to our clinic with a suspected diagnosis of an inborn error of metabolism (IEM). He was born at term with a birth weight of 3620 g with an uneventful delivery. He was the first child of nonconsanguineous Turkish pare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac34adefe796f36ed6753dce70669d8c
https://doi.org/10.1007/s00467-020-04891-y

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