Zobrazeno 1 - 10
of 844
pro vyhledávání: '"Neonatal onset"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has made it possible to s
Externí odkaz:
https://doaj.org/article/08068b112e3342bd91cfc4fc1bd78a60
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder. Several male patients with OTCD suffer from severe hyperammonemic crisis in the neonatal period, whereas others develop late-onset manifestations, including hyperammonemic coma. Fe
Externí odkaz:
https://doaj.org/article/3ee194bc3f68457888cdccb4cfd04a3f
Publikováno v:
European Psychiatry, Vol 65, Pp S407-S408 (2022)
Introduction Age at onset of pediatric bipolar spectrum disorder (BSD) is an important marker of a more severe form and a highly heritable mood/mental disorder. Objectives Here, we report a familial Tunisian BSD follow-up study showing a very early
Externí odkaz:
https://doaj.org/article/b4ec300e7b4048748ce50e634d46314c
Autor:
Kyoko Yokoi, Sachiko Minamiguchi, Yoshitaka Honda, Mizuho Kobayashi, Satoru Kobayashi, Ryuta Nishikomori
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-6 (2021)
Abstract Background Cryopyrin-associated periodic syndrome (CAPS) is a life-long, autoinflammatory disease associated with a gain-of-function mutation in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain containing 3 (NLRP3) gen
Externí odkaz:
https://doaj.org/article/94e3ffc48043492e98243a566a3e764c
Autor:
Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of th
Externí odkaz:
https://doaj.org/article/6576ac84589f4bc0b87484f64caa35ba
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Magda Carneiro-Sampaio, Carlos Alberto Moreira-Filho, Silvia Yumi Bando, Jocelyne Demengeot, Antonio Coutinho
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
IPEX is one of the few Inborn Errors of Immunity that may manifest in the fetal period, and its intrauterine forms certainly represent the earliest human autoimmune diseases. Here, we review the clinical, histopathologic, and genetic findings from 21
Externí odkaz:
https://doaj.org/article/f222b7c3755e4b54aad78019b1a50591