Results 121 to 130 of about 1,973 (193)

Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

Journal of Pediatric Research, 2018
Aim:Mucopolysaccharidosis Type IVA (MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemic involvements include skeletal systems, pulmonary disease, valvular heart disease, hearing ...
Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker   +5 more
doaj   +1 more source

Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads. [PDF]

Front Pediatr, 2022
Ma Y, Peng H, Hsiang F, Fang H, Du D, Jiang C, Wang Y, Chen C, Zhang C, Gao Y.   +9 more
europepmc   +1 more source

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  

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

Additional file 1 of Delayed diagnosis of mild mucopolysaccharidosis type IVA

Supplementary Material ...
Yi, Mengni, Shen, Pinquan, Zhang, Huiwen
openaire   +1 more source

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. [PDF]

Anesth Analg, 2023
Theroux MC, DiCindio S, Averill LW, Pizarro C, Oommen A, Bober MB, Ditro C, Campbell J, Duker AL, Jones T, Passi V, Barth P, Schmidt RJ, Little M, Mackenzie S, Tomatsu S, Mackenzie WG.   +16 more
europepmc   +1 more source

Mucopolysaccharidosis Type IVA [PDF]

, 2020
openaire   +1 more source

Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review. [PDF]

BMC Pediatr, 2021
Ge Z, Mao J, Shen H, Xu Y, Fu H, Zhang W, Li D.   +6 more
europepmc   +1 more source

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England. [PDF]

Orphanet J Rare Dis, 2021
Cleary M, Davison J, Gould R, Geberhiwot T, Hughes D, Mercer J, Morrison A, Murphy E, Santra S, Jarrett J, Mukherjee S, Stepien KM.   +11 more
europepmc   +1 more source