Results 141 to 150 of about 9,431 (199)

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy. [PDF]

Diagnostics (Basel)
Trandafirescu MF, Avădănei ER, Filip N, Saveanu CI, Foia I, Toma V, Baroi LG, Anton-Paduraru DT, Moisa SM, Lozneanu L.   +9 more
europepmc   +1 more source

[Case of mucopolysaccharidosis II--Hunter's syndrome].

Pediatria polska, 1976
M, Walczak, B, Pawlaczyk, T, Sioda, E, Piontek   +3 more
openaire   +1 more source

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

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB. [PDF]

JIMD Rep
Wijnen M, van Velsen EFS, Milhous JG, Oussoren E, van der Eerden BCJ, Wagenmakers MAEM.   +5 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

Audiologic evaluations of children with mucopolysaccharidosis [PDF]

Brazilian Journal of Otorhinolaryngology, 2016
INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG).
Håkan Tutar, Yusuf Kemaloglu, Bulent Gunduz   +2 more
exaly   +2 more sources

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Nasal Polyposis in mucopolysaccharidosis type II

BMJ Case Reports, 2021
Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS.
Sushmitha Kabekkodu, Suja Sreedharan, Kirti Gupta, Nirupama Murali   +3 more
openaire   +2 more sources