Zobrazeno 1 - 10
of 1 258
pro vyhledávání: '"Reductase Deficiency"'
Publikováno v:
Global Medical Genetics, Vol 11, Iss 01, Pp 100-112 (2024)
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic path
Externí odkaz:
https://doaj.org/article/4eb643cea5714bf28179c8a5c6d6c2be
Autor:
Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022)
Abstract Objective The use of folic acid (FA) has been discouraged in cerebral folate deficiency (CFD) because, theoretically, it could inhibit the transport of 5‐methyltetrahydrofolic acid (5MTHF) across the blood–cerebrospinal fluid (CSF) barri
Externí odkaz:
https://doaj.org/article/5777a91eae754e17a852a102daa09081
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100999- (2023)
Background: Cystathionine beta synthase deficiency (causing classical homocystinuria) has been associated with high-arched palates and crowded teeth, but little has been said about other oral health complications. Other homocystinurias (e.g., the rem
Externí odkaz:
https://doaj.org/article/d5d8f0e3122a4ca79d1562922178cbe0
Akademický článek
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Publikováno v:
Clinical Case Reports, Vol 11, Iss 5, Pp n/a-n/a (2023)
Key clinical message 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred unt
Externí odkaz:
https://doaj.org/article/2792fb4d0f494cd09b25df463e3626b3
Autor:
Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 153-171 (2022)
INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the de
Externí odkaz:
https://doaj.org/article/860a70dc14c9409aacfb6b3de305c261
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Autor:
Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis. Additional symptoms are sti
Externí odkaz:
https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 12, Pp 87-95 (2019)
Laith N AL-Eitan,1,2 Islam M Al-Dalalah,1 Mohamed M Mustafa,3 Mansour A Alghamdi,4 Afrah K Elshammari,5 Wael H Khreisat,5 Hanan A Aljamal11Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, Jordan; 2Departm
Externí odkaz:
https://doaj.org/article/ed2d54bb81c1482c877ef5f569e421f1
Akademický článek
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