Results 81 to 90 of about 23,853 (147)

Mucopolysaccharidosis

, 2021
openaire   +1 more source

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I. [PDF]

Orphanet J Rare Dis
Guffon N, Pettazzoni M, Pangaud N, Reynes N, Le Peillet Feuillet E, Journeau P, Fouilhoux A.   +6 more
europepmc   +1 more source

Mucopolysaccharidosis

, 2010
openaire   +1 more source

Mucopolysaccharidosis

Tzu Chi Medical Journal, 2011
openaire   +1 more source

Mucopolysaccharidosis

, 2009
openaire   +1 more source

A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis. [PDF]

Surg Neurol Int
Hashimoto J, Kawasaki T, Kobayashi T, Ioroi Y, Takayama M.   +4 more
europepmc   +1 more source

Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients. [PDF]

Orphanet J Rare Dis
Fateen E, Nosier SS, Aziz NNA, Radwan AM, Mohammed EEA.   +4 more
europepmc   +1 more source

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study. [PDF]

Diagnostics (Basel)
Yazıcı H, Kara E, Bulut FD, Çelik MY, Köşeci B, Erdem F, Burgaç E, Yanbolu AY, Kaplan İ, Durmaz A, Aykut A, Canda E, Kor D, Uçar SK, Sözmen E, Çoker M, Mungan HNÖ.   +16 more
europepmc   +1 more source

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. [PDF]

Cureus
Rakshit P, Sadayandi Ramesh A, Gopikrishnan R, Mani MK, Sathia Prabhu A.   +4 more
europepmc   +1 more source

The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome. [PDF]

Arq Neuropsiquiatr
Sheikh M, Thein I, Abrams KJ, Freitas LF.   +3 more
europepmc   +1 more source