Zobrazeno 1 - 10
of 89
pro vyhledávání: '"classical homocystinuria"'
Autor:
Mahim Jain, Mehul Shah, Kamlesh M. Thakker, Andrew Rava, Agness Pelts Block, Colette Ndiba-Markey, Lionel Pinto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101101- (2024)
Background and objectives: Prevalence estimates for classical homocystinuria (HCU) are variable and likely underestimated due to underdiagnosis. Claims data represent a strong but seldom used resource to analyze prevalence of HCU. The aim of this stu
Externí odkaz:
https://doaj.org/article/2834256d279440a8a1a1c33f7b1f3763
Autor:
Nour Elkhateeb, Sarah Hyde, Sarah L. Hogg, Daniel Allsop, Arun Shankar, Patrick Deegan, Chong Y. Tan
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 238-245 (2023)
Abstract Classical homocystinuria (HCU) is caused by cystathionine β‐synthase deficiency leading to impaired homocysteine transsulfuration and accumulation of homocysteine and methionine. Patients present with a wide spectrum of manifestations inc
Externí odkaz:
https://doaj.org/article/d8483ff8492747449f659891716e346e
Akademický článek
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Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Abstract Background Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39–1.73:100,000] according to
Externí odkaz:
https://doaj.org/article/9e85f8e0ed744624bc24710b636cca16
Autor:
Imalke Kankananarachchi, Thilina Madushanka Munasinghe, Nayana Liyanarachchi, Sujeewa Amarasena
Publikováno v:
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, Vol 9, Iss 1, Pp 62-64 (2019)
Homocystinuria is an autosomal recessive disorder with the prevalence of 1;200000. It is due to the defect in the Methionine metabolism which results in accumulation of Homocysteine in the body. We report a series of patients with Homocystinuria foll
Externí odkaz:
https://doaj.org/article/79d8152b63d64ec197f2657994c78891
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. Th
Externí odkaz:
https://doaj.org/article/1921e9d5be6d4bf8a90c08b6e751a1fc
Kniha
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Muhammad Wasim, Haq N. Khan, Hina Ayesha, Mazhar Iqbal, Abdul Tawab, Muhammad Irfan, Warsha Kanhai, Susanna M. I. Goorden, Lida Stroomer, Gajja Salomons, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli R. Awan
Publikováno v:
Journal of pediatric endocrinology & metabolism, 35(3), 325-332. Walter de Gruyter GmbH
Background Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectual disab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ebd9ea5c2cc5c279f5a7be47f4b1aa0
https://pure.amc.nl/en/publications/identification-of-three-novel-pathogenic-mutations-in-cystathionine-betasynthase-gene-of-pakistani-intellectually-disabled-patients(7b1bd1e5-63da-482c-a0a5-b812b941cdc4).html
https://pure.amc.nl/en/publications/identification-of-three-novel-pathogenic-mutations-in-cystathionine-betasynthase-gene-of-pakistani-intellectually-disabled-patients(7b1bd1e5-63da-482c-a0a5-b812b941cdc4).html
Autor:
Fernanda Sperb-Ludwig, Giovana Regina Weber Hoss, Henk J. Blom, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Background Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39–1.73:100,000] according to clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::800413f2ded55101bade2d8c18c90e11
https://pubmed.ncbi.nlm.nih.gov/32232970
https://pubmed.ncbi.nlm.nih.gov/32232970