Zobrazeno 1 - 10
of 1 255
pro vyhledávání: '"Hydroxylase deficiency"'
Publikováno v:
JCRPE, Vol 16, Iss 3, Pp 372-378 (2024)
In terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency. 11β-OHD has been attributed to diminished enzymatic activity owing to CYP11B1 gene variants,
Externí odkaz:
https://doaj.org/article/a35546dae2ca4ad08349772860baf8a9
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 24, Iss 4, Pp 285-289 (2024)
Externí odkaz:
https://doaj.org/article/0c847844379e4e568d85b6f3fe786ccd
Autor:
QI Mengmeng, WANG Xuemei, LIU Yunting, WANG Qian, XIN Qianyu, LIN Hua, LYU Wenshan, YANG Lili
Publikováno v:
精准医学杂志, Vol 38, Iss 6, Pp 538-541 (2023)
Objective To report the genetic information of a patient with non-classic 21 hydroxylase deficiency (21-OHD) for enriching the genetic database of this disease. Methods The clinical data and gene sequencing results of a patient with non-classic 21-OH
Externí odkaz:
https://doaj.org/article/577824bd410b4a4795da731915ff8906
Publikováno v:
Gynecological Endocrinology, Vol 39, Iss 1 (2023)
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a related enzyme deficiency involved in the adrenal corticosteroid synthesis pathway due to genetic mutations. 17α-hydroxylase deficiency(17α-OHD) is a rare form of CAH. H
Externí odkaz:
https://doaj.org/article/822329eca32a484284808aa965999bd5
Autor:
Semra Çaglar Çetinkaya
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/d1787571b595405c835831cc5b5d9754
Autor:
Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-15 (2023)
Abstract Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early‐onset Parkinsonism. Affected children present with either a severe form that does not respond to L‐Dopa treatment (THD‐B) or a
Externí odkaz:
https://doaj.org/article/e22ef144c32047569cfc1dd967018c9c
Akademický článek
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Akademický článek
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Autor:
Marjolaine Champagne, Gabriella A. Horvath, Sébastien Perreault, Julie Gauthier, Keith Hyland, Jean‐François Soucy, Grant A. Mitchell
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 400-406 (2022)
Abstract Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A, milder, presents after 12 months of age with progressive hypokinesis and rigidity.
Externí odkaz:
https://doaj.org/article/70fa26e26ecf46a1ad40d7b3663f4916
Autor:
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slo
Externí odkaz:
https://doaj.org/article/bdd447f54e584782960d2e7d0280fe60