Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Andrea Zatkova"'
Publikováno v:
Metabolites, Vol 14, Iss 6, p 339 (2024)
In the original publication [...]
Externí odkaz:
https://doaj.org/article/40d1e6fac29b448ab006434844895f42
Autor:
Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath
Publikováno v:
RMD Open, Vol 8, Iss 2 (2022)
Objectives Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking.Methods Patients with AKU aged 25 years or
Externí odkaz:
https://doaj.org/article/7ad17879aed8418c859a209f23af4c38
Publikováno v:
Metabolites, Vol 12, Iss 10, p 990 (2022)
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding for homogentisate 1,2-dioxygenase (HGD). To date, 251 different variants of this gene have been reported. The metabolic disorder in AKU leads to the ac
Externí odkaz:
https://doaj.org/article/37e96dc1aa1b4b2fad23a1626a1edf96
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 17, Iss 1, Pp 1-5 (2017)
Abstract Background Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. Main bod
Externí odkaz:
https://doaj.org/article/c47f50d94f5b47e69480c8100f085bbc
Autor:
Zuzana POS, Milad KHEDR, Jan RADVANSZKY, Adela PENESOVA, Rastislav HEKEL, Tomas SZEMES, Lakshminarayan Rao RANGANATH, Andrea ZATKOVA
Publikováno v:
Bratislava Medical Journal. 124:351-355
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38ba439aa4f27a840a1951224119915f
https://doi.org/10.4149/bll_2023_053
https://doi.org/10.4149/bll_2023_053
Autor:
Richard Imrich, Andrea Zatkova, Olga Lukacova, Jana Sedlakova, Elizabeth Zanova, Miroslav Vlcek, Adela Penesova, Zofia Radikova, Andrea Havranova, Lakshminarayan Ranganath
Publikováno v:
Endocrine Regulations. 57:61-67
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70e71cc876bccc7a2b7f275688b3e49f
https://doi.org/10.2478/enr-2023-0008
https://doi.org/10.2478/enr-2023-0008
Publikováno v:
Eur J Hum Genet
Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1663ba707105663c98c9806a96dc689
https://doi.org/10.1038/s41431-021-00955-1
https://doi.org/10.1038/s41431-021-00955-1
Autor:
Eva RADVANSKA, Zuzana POS, Andrea ZATKOVA, Michaela HYBLOVA, Frantisek BAUER, Tomas SZEMES, Ludevit KADASI, Jan RADVANSZKY
Publikováno v:
Bratislavske lekarske listy. 123(8)
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA).We analysed three probands (later discovered to be sibli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86be9977e5d21196a302d3e9c99df444
https://pubmed.ncbi.nlm.nih.gov/35852507
https://pubmed.ncbi.nlm.nih.gov/35852507
Publikováno v:
The Application of Clinical Genetics. 13:37-47
The last 15 years have been the most fruitful in the history of research on the metabolic disorder alkaptonuria (AKU). AKU is caused by a deficiency of homogentisate dioxygenase (HGD), the enzyme involved in metabolism of tyrosine, and is characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2113101a95ec3de8f4de1604b47ee1ef
https://doi.org/10.2147/tacg.s186773
https://doi.org/10.2147/tacg.s186773
Publikováno v:
European journal of human genetics : EJHG.
Until recently, mainly DNA sequencing has been used to identify variants within the gene coding for homogentisate dioxygenase (HGD, 3q13.33) that cause alkaptonuria (AKU), an autosomal recessive inborn error of metabolism of tyrosine. In order to ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26b180c6cef17ec91735e4328475cf6
https://pubmed.ncbi.nlm.nih.gov/35110678
https://pubmed.ncbi.nlm.nih.gov/35110678