Results 111 to 120 of about 1,973 (193)

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
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Comparison of Liquid Chromatography–Tandem Mass Spectrometry and Sandwich ELISA for Determination of Keratan Sulfate in Plasma and Urine [PDF]

, 2011
Full open access to this ...
Fujii, Tadashi, Fukushi, Masaru, Hintze, Jonathan P., Ishimaru, Takeshi, Montaño, Adriana M., Orii, Tadao, Suzuki, Yasuyuki, Tomatsu, Shunji, Yamaguchi, Seiji   +8 more
core   +3 more sources

Mucopolysaccharidosis Type IVa (Morquio Syndrome) Clinical Features and Management: Case Report

Medicine and Clinical Science
Mucopolysaccharidosis type IV A (MPS IV A), often referred to as Morquio syndrome, is a rare genetic disease characterised by an autosomal recessive deficiency in N-acetylgalactosamine-6-sulfatase (GALNS), which results in the accumulation of glycosaminoglycans within cells.
Fouad Althobaiti, Alkhulaisi Shatha, Muaath Alzahrani   +2 more
openaire   +1 more source

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

The Application of Clinical Genetics, 2018
Sandra M Tapiero-Rodriguez,1 Johanna C Acosta Guio,1 Gloria Liliana Porras-Hurtado,2 Natalia García,3 Martha Solano,4 Harry Pachajoa,5 Harvy M Velasco1 1Universidad Nacional de Colombia, Departamento de morfología, Maestría de gen ...
Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM   +6 more
doaj  

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Best abstracts from the APAGBI Annual Scientific Meeting 2024

Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
wiley   +1 more source

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis. [PDF]

J Pers Med, 2022
Lee CL, Chuang CK, Syu YM, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time

Genetics in Medicine Open
Purpose: To assess the real-world effectiveness of enzyme replacement therapy (ERT; elosulfase alfa) on endurance in the treatment of mucopolysaccharidosis type IVA (MPS IVA) using cross-sectional data. Methods: The 6-minute walk test (6MWT) distances of
Barbara K. Burton, Karolina M. Stepien, Philippe M. Campeau, Jaim Sutton, Abigail Hunt, Pascal Reisewitz, David Hinds   +6 more
doaj   +1 more source

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. [PDF]

Genes (Basel), 2022
Ghafoor S, Silveira KDC, Qamar R, Azam M, Kannu P.   +4 more
europepmc   +1 more source

گزارش مورد: گزارش اداره ی بيهوشی جهت انجام هيستروتومی در يک موردسندرم مورکيو [PDF]

, 2011
سندرم موركيو يك بيماري ارثي اتوزوم مغلوب از گروه موكوپليساكاريدوز هاست كه از نظر باليني با ديسپلازي شديد اسكلتي و با بهرههوشي نرمال مشخص ميشود. ارتشاح كراتان سولفات در نسوج مختلف رخ ميدهد و با پيشرفت بيماري ميتواند باعث درگيري نسج همبند قرنيه و راههاي ...
اسداله, سارا, الماسی نوکيانی, فریبا, الماسی, علیرضا, رحیم زاده, پوپک, فیض, سید حمیدرضا   +4 more
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