Results 121 to 130 of about 2,254 (171)

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
core  

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA

International Journal of Molecular Sciences
Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is a rare inherited disorder characterized by skeletal dysplasia due to deficient N-acetylgalactosamine-6-sulfate sulfatase activity, resulting in glycosaminoglycan (GAG) accumulation. Identifying accurate biomarkers reflecting clinical severity and therapeutic response remains challenging ...
Yasuhiko Ago, Shaukat Khan, Kimberly Klipner, Allison Bradford, Shunji Tomatsu   +4 more
openaire   +1 more source

FIND: the importance of early diagnosis in mucopolyssacharidoses [PDF]

, 2017
As Mucopolissacaridoses (MPS) são um sub-grupo das Doenças Lisossomais de Sobrecarga, causadas por deficiências em enzimas lisossomais, que catalisam a degradação dos glicosaminoglicanos (também designados GAGs ou mucopolissacarídeos), que se acumulam
Alves, Sandra, Gaspar, Paulo, Teles, Elisa Leão, Vilarinho, Laura   +3 more
core  

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts. [PDF]

Int J Mol Sci, 2023
Brokowska J, Gaffke L, Pierzynowska K, Węgrzyn G.   +3 more
europepmc   +1 more source

Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).

The Angle orthodontist, 2006
PubMed ID ...
Ertan Erdinç A.M., Önçag G., Cal E.
openaire   +2 more sources

Determinación de hexosamines en orina por HPLC para el diagnóstico de mucopolisacariosis tipo III [PDF]

, 2014
Treballs Finals de Grau de Química, Facultat de Química, Universitat de Barcelona, Any: 2014, Tutors: Dra. Elisabet Fuguet Jordà i Dr. Rafael Artuch IriberriIn the present work a reported analytical method was optimized in order to improve the ...
Zamora Campos, Nelson
core  

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries. [PDF]

Orphanet J Rare Dis, 2022
Magner M, Almássy Z, Gucev Z, Kieć-Wilk B, Plaiasu V, Tylki-Szymańska A, Zafeiriou D, Zaganas I, Lampe C.   +8 more
europepmc   +1 more source

Unequal Interchromosomal Rearrangements May Result in Elastin Gene Deletions Causing the Williams-Beuren syndrome [PDF]

, 2017
Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to
Dutly, Fabrizio, Schinzel, Albert
core  

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. [PDF]

Int J Mol Sci, 2022
Piechnik M, Amendum PC, Sawamoto K, Stapleton M, Khan S, Fnu N, Álvarez V, Pachon AMH, Danos O, Bruder JT, Karumuthil-Melethil S, Tomatsu S.   +11 more
europepmc   +1 more source