Results 131 to 140 of about 4,093 (193)

Radiographic assessment of mucopolysaccharidoses: A pictorial review. [PDF]

World J Clin Pediatr
Teixeira de Castro Gonçalves Ortega AC, Amorim Moreira Alves G, Perera Molligoda Arachchige AS.   +2 more
europepmc   +1 more source

Mucopolysaccharidoses: A biochemical study under limited resources. [PDF]

Mol Genet Metab Rep
Bouzid F, El Fissi H, Karim K, Sebbar MS, Jabir B, Chuis N, Msanda F, Alif N.   +7 more
europepmc   +1 more source

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
europepmc   +1 more source

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing. [PDF]

Front Genet, 2023
Gul R, Firasat S, Schubert M, Ullah A, Peña E, Thuesen ACB, Gjesing AP, Hussain M, Tufail M, Saqib M, Afshan K, Hansen T.   +11 more
europepmc   +1 more source

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA. [PDF]

Front Pediatr
Arnaboldi SMC, Faraguna MC, Colombini A, Sala A, Leoni V, Spinelli M, Gotti G, Bettini LR, Crescitelli V, Commone A, Gasperini S, Rizzari C.   +11 more
europepmc   +1 more source

Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood. [PDF]

Children (Basel)
Church C, Patil S, Butler S, Miller F, Salazar-Torres JJ, Lennon N, Shrader MW, Donohoe M, Kalisperis F, Mackenzie WGS, Nichols LR.   +10 more
europepmc   +1 more source

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

Genet Med Open
Burton BK, Stepien KM, Campeau PM, Sutton J, Hunt A, Reisewitz P, Hinds D.   +6 more
europepmc   +1 more source

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report. [PDF]

Radiol Case Rep
Gebresilassie MY, Mehammed AH, Damtie MY, Midekso HD, Bezabih NA, Abera MT, Worku AB.   +6 more
europepmc   +1 more source

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population. [PDF]

Sci Rep, 2023
Echeverry-Quiceno LM, Candelo E, Gómez E, Solís P, Ramírez D, Ortiz D, González A, Sevillano X, Cuéllar JC, Pachajoa H, Martínez-Abadías N.   +10 more
europepmc   +1 more source

Hearing loss in patients with Morquio A syndrome: A scoping review. [PDF]

Medicine (Baltimore)
Diaz-Ordoñez L, Duque-Cordoba PA, Silva-Cuero K, Gutierrez-Medina JD, Saldarriaga W, Murgašová L, Magner M, Candelo E, Pachajoa H.   +8 more
europepmc   +1 more source