Results 111 to 120 of about 15,739 (180)

Assessment of bone health and bone mineral density in patients with mucopolysaccharidosis receiving enzyme replacement therapy. [PDF]

BMC Pediatr
El Feil NSA, Abuzaid Y, Mobarak A.
europepmc   +1 more source

Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry. [PDF]

World J Clin Pediatr
Vechkasova AO, Zakharova EY, Buchinskaya NV, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM.   +7 more
europepmc   +1 more source

Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center Study. [PDF]

J Clin Med
Carmon L, Nassar M, Idan D, Leifman D, Shaki D, Elamour S, Hershkovitz E, Loewenthal N, Haim A, Chacham OS.   +9 more
europepmc   +1 more source

Microwave-Assisted Synthesis and Enzyme Stabilization Study of <i>N</i>‑Alkyl Praziquantel Analogs for Arylsulfatase B: Possible Leads for Mucopolysaccharidosis VI Therapy. [PDF]

ACS Omega
Cantrell LS, DeGraaff B, Hostetler J, Koentopp R, Terpstra K, Weissinger S, Zeitler SM, Russell TA.   +7 more
europepmc   +1 more source

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning. [PDF]

Pediatr Int
Okuno T, Ikawa M, Yuasa M, Muramoto A, Fu L, Matsumoto N, Watanabe A.   +6 more
europepmc   +1 more source

Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis. [PDF]

Mol Genet Metab Rep
Dealy J, Inbar-Feigenberg M.
europepmc   +1 more source

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 more
europepmc   +1 more source

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation. [PDF]

BMC Pediatr
Zou H, Yang L, Qin Y, Zhang R.
europepmc   +1 more source

Guidance for Home Enzyme Replacement Therapy in Children and Adolescents Diagnosed with Mucopolysaccharidoses: A Scoping Review Protocol. [PDF]

Int J Environ Res Public Health
Oliveira VR, Martins YNF, Araújo JIF, Silva EFD, Fuentes MB, Oliveira JSA.   +5 more
europepmc   +1 more source