Výsledky vyhledávání - "Mübeccel, Demirkol"

Akademický článek

Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature

Autor: Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay

Publikováno v: JIMD Reports, Vol 65, Iss 5, Pp 305-312 (2024)

Abstract Alpha‐methylacyl‐CoA‐racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical

Externí odkaz: https://doaj.org/article/ce5fc731aa4b4a558769ab1f902a8afa

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Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiency

Autor: Erhan Aygün, Beyhan Omer, Aylin Yetim, Ahmet Uçar, Mübeccel Demirkol, Ethem Erginöz, Çağcıl Yetim, Firdevs Bas, Gülden Gökçay, Gülbin Gökçay, T Dağoğlu, Zeynep Karakas

Publikováno v: The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 34(8)

Objective: Our aim was to determine the prevalence of maternal and neonatal vitamin B12 (vit-B12) and folate deficiencies, a new cutoff value of serum vit-B12 in newborns using vit-B12-related metabolites and also cutoff values of homocysteine (Hcy),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84e14057aca5a284414e0453882fe85
https://pubmed.ncbi.nlm.nih.gov/31204544

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Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

Publikováno v: Molecular Genetics and Metabolism, 122(1-2), 67-75. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 122(1-2), 67. Academic Press Inc.

2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdfc84aac681de0da8ab5d0e00bca976
https://research.rug.nl/en/publications/7c6dda46-746a-4167-9e7e-b6de9a37c932

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Publikováno v: Molecular genetics and metabolism. 121(3)

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046c5caa3e0e8a3ffe9d696dfc6a4a5e
https://pubmed.ncbi.nlm.nih.gov/28583327

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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Autor: Ann B. Moser, Gerardo Jimenez-Sanchez, Wouter F. Visser, Ozlem Durmaz, David Valle, Mübeccel Demirkol, Simone Denis, Carlo W.T. van Roermund, Mine Gulluoglu, Ronald J.A. Wanders, Janet Koster, Hans R. Waterham, Sacha Ferdinandusse, Gülden Gökçay, Irma Silva-Zolezzi

Publikováno v: Human molecular genetics, 24(2), 361-370. Oxford University Press

ABCD3 is one of three ATP-binding cassette (ABC) transporters present in the peroxisomal membrane catalyzing ATP-dependent transport of substrates for metabolic pathways localized in peroxisomes. So far, the precise function of ABCD3 is not known. He

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5ff88b739874afecc37330deb6c7fd
https://doi.org/10.1093/hmg/ddu448

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Towards newborn screening for ornithine transcarbamylase deficiency: Fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry

Autor: Gülden Gökçay, Michael Peter, Michael Terhardt, Thomas Lücke, Mübeccel Demirkol, Anibh M. Das, Nils Janzen, Stefanie Sander, Johannes Sander

Publikováno v: Clinica Chimica Acta. 430:28-32

Background Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D). Inclusion of OA into newborn screening compatibility with existing analytical procedures is necessary. Methods OA was eluted from drie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e054be7029849604fa4fd8910dc68d
https://doi.org/10.1016/j.cca.2013.12.020

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Inherited Metabolic Diseases as Etiological Factors in Cytopenia

Autor: Mübeccel Demirkol, Melike Ersoy, Gülden Gökçay

Publikováno v: Tuberculin Skin Test in Children. 12:113-116

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6aa8d6ab588cca34c3c9ac1b68ccfbe6
https://doi.org/10.5222/j.child.2012.113

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Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI

Autor: Zeynep Tamay, Mehmet Balci, Gülden Gökçay, Nermin Güler, Fatih Dilek, Mübeccel Demirkol, Deniz Özçeker

Publikováno v: JIMD Reports ISBN: 9783662536803

Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic, and multisystem lysosomal storage disease. Enzyme replacement therapy (ERT) with the recombinant human arylsulfatase B enzyme (galsulfase [Naglazyme]) is recommended as first-line ther

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40914bbb0e256a244bd287e6f722b673
https://doi.org/10.1007/8904_2016_542

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