Results 141 to 150 of about 21,613 (172)

An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II. [PDF]

BMC Health Serv Res
Stepien KM, Ayodele O, Muenzer J, Giugliani R, Jackson C, Meade L, Scarpa M, Lampe C, Audi J, Jain S, Toro MD.   +10 more
europepmc   +1 more source

Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges. [PDF]

Diagnostics (Basel)
Tulebayeva A, Gadepalli C, Sharipova M.
europepmc   +1 more source

Molecular Modeling of N-Acetylglucosamine Binding to the I154R Mutant of NAGLU: Pathogenic Insights into Sanfilippo Syndrome Type B. [PDF]

Int J Mol Sci
Kannan P, Priya Nanda Kumar M, Kumar Nanda Kumar S, Vasudevan V, Kaviarasan K, Ramasamy M.   +5 more
europepmc   +1 more source

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings. [PDF]

J Hand Surg Eur Vol
van Binsbergen BAW, van Dongen JA, Vriend L, Goedee SH, van Hasselt PM, Mink van der Molen AB.   +5 more
europepmc   +1 more source

Noonan Syndrome Type 5 Diagnosed by Next-Generation Sequencing: A Report of a Rare Pediatric Case. [PDF]

Cureus
Kheir S, Ahmidi J, Tajir M, Rkain M, Babakhouya A.   +4 more
europepmc   +1 more source

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

JAMA Netw Open
Sakaguchi H, Kosuga M, So T, Gocho Y, Ono S, Yasue S, Mizuno S, Minato S, Higuchi T, Kim Y, Sekiguchi M, Yamada M, Deguchi T, Ogiwara H, Kurosawa K, Okuyama T, Iguchi A, Tomizawa D, Matsumoto K.   +18 more
europepmc   +1 more source