Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Fumarase deficiency"'
Autor:
Irene M. L. W. Korver-Keularts, Jörgen Bierau, Udo F. H. Engelke, Daphna D. J. Habets, Laura K.M. Steinbusch, Karlien L.M. Coene, Fons A.P.M. Stassen, Ping Wang, Huub W.A.H. Waterval
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44, 1113-1123
Journal of Inherited Metabolic Disease, 44(5), 1113-1123. Wiley
Journal of Inherited Metabolic Disease, 44, 5, pp. 1113-1123
Journal of Inherited Metabolic Disease, 44, 1113-1123
Journal of Inherited Metabolic Disease, 44(5), 1113-1123. Wiley
Journal of Inherited Metabolic Disease, 44, 5, pp. 1113-1123
Contains fulltext : 237508.pdf (Publisher’s version ) (Open Access) The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integrative analytical approaches. We aimed to develop an innovative, targeted urine me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ead9127379ab168ca9f9cbc920f0dd
https://cris.maastrichtuniversity.nl/en/publications/7db57fc0-9cd2-4e24-af45-f144863b8ce2
https://cris.maastrichtuniversity.nl/en/publications/7db57fc0-9cd2-4e24-af45-f144863b8ce2
Autor:
Eric Lu, Shantao Li, Kathryn E. Hatchell, Heather R. Christofk, Blake R. Wilde, Brian Shuch, Keith Nykamp, Shirin Zavoshi, Liying Zhang, Sarah M. Nielsen, Karen Ouyang, Edward D. Esplin, Paul C. Boutros
Publikováno v:
Cancer
Cancer, vol 128, iss 4
Cancer, vol 128, iss 4
BackgroundGermline variants in fumarate hydratase (FH) are associated with autosomal dominant (AD) hereditary leiomyomatosis and renal cell cancer (HLRCC) and autosomal recessive (AR) fumarase deficiency (FMRD). The prevalence and cancer penetrance a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9329cf780776a08eb9465747082db076
https://doi.org/10.1002/cncr.33997
https://doi.org/10.1002/cncr.33997
Autor:
Jaap Bakker, Cacha Peeters, Ed Jacobs, Susan M. I. Goorden, Marieke Peetsold, Martijn H. Breuning, Monique Williams, Lydia Hussaarts-Odijk
Publikováno v:
Journal of Child Neurology, 36(4), 310-323. SAGE Publishing
Journal of Child Neurology, 36(4), 310-323. SAGE PUBLICATIONS INC
Journal of Child Neurology, 36(4), 310-323. SAGE PUBLICATIONS INC
Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase ( FH) gene. Several pathogenic mutations have been published. The article describes an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6199319ea23f6931563aa5bc6acfdbe1
https://doi.org/10.1177/0883073820962931
https://doi.org/10.1177/0883073820962931
Akademický článek
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Publikováno v:
Ars Pharmaceutica (Internet) v.63 n.2 2022
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
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SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
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Introduction: Fumarase deficiency is a rare autosomal metabolic disease that curse with hypotonia, hyperlacticaemia and seizures. Diagnosis based in laboratory test might be done carefully, as most of metabolic diseases present similar symptomatology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12d36c2d67b9474f600ac8b432e9422
https://doi.org/10.30827/ars.v63i2.22369
https://doi.org/10.30827/ars.v63i2.22369
Publikováno v:
Paediatrics Publications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a8565b37ad2e2d8f04c5c06d07d0e74
https://doi.org/10.1097/mcd.0000000000000148
https://doi.org/10.1097/mcd.0000000000000148
Publikováno v:
Journal of Inherited Metabolic Disease. 39:683-687
Over the last 10 years, a total of 90 urine samples from patients with metabolic disorders and controls were circulated to different laboratories in Europe and overseas, starting with 67 laboratories in 2005 and reaching 101 in 2014. The participants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7103b433c41f8ee99da9986af022bb9d
https://doi.org/10.1007/s10545-016-9941-1
https://doi.org/10.1007/s10545-016-9941-1
Autor:
Şeyma Memur, Fatih Kardaş, Mehmet Adnan Ozturk, Tamer Gunes, Hülya Halis, Levent Korkmaz, Osman Baştuğ, Zuhal Tağ
Publikováno v:
Türk Pediatri Arşivi. 49:74-76
Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis, intrauterine growth retardation, enlarged brain ventricles and brain anom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5dafd54853b3d89d027c2b50d00371
https://doi.org/10.5152/tpa.2014.442
https://doi.org/10.5152/tpa.2014.442
Publikováno v:
Biomedical chromatography : BMC. 32(4)
Fumarase catalyzes the interconversion of fumarate and l-malate in the tricarboxylic acid cycle. Fumarase insufficiencies were associated with increased levels of fumarate, decreased levels of malate and exacerbated salt-induced hypertension. To gain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe3170e6f8b651457c55f037f3ad41f
https://pubmed.ncbi.nlm.nih.gov/29130499
https://pubmed.ncbi.nlm.nih.gov/29130499
Publikováno v:
JIMD Reports ISBN: 9783662578797
Fumarate hydratase deficiency (FHD) caused by biallelic alterations of the FH (fumarate hydratase) gene is a rare disorder of the tricarboxylic acid cycle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::589e826976dd5b56dc87bc2ffb99041c
https://pubmed.ncbi.nlm.nih.gov/29052812
https://pubmed.ncbi.nlm.nih.gov/29052812