Results 121 to 130 of about 11,933,855 (190)

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age. [PDF]

Mol Genet Metab Rep
Ikari A, Hama A, Okuyama T.
europepmc   +1 more source

遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
祐川, 和子
core  

Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. [PDF]

Int J Mol Sci
Al-Hertani W, Pathak RR, Evuarherhe O, Carter G, Schaeffer-Koziol CR, Whiteman DAH, Wright E.   +6 more
europepmc   +1 more source

Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice. [PDF]

Sci Rep
Lee H, Han JH, Jeong RG, Kang YJ, Choi BH, Kim SR, Cheon CK, Hur J, Lee SY.   +8 more
europepmc   +1 more source

Type II Diabetes Mellitus

Type II Diabetes Mellitus is a chronic illness in which the body either produces insufficient insulin or fails to use insulin efficiently. In contract to Type I Diabetes Mellitus, Type II Diabetes Mellitus affects adults, although due to an increase in ...
Oyeleke, Tomiwa Florence
core  

Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond. [PDF]

BioDrugs
Zanetti A, Tomanin R.
europepmc   +1 more source

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants. [PDF]

Hum Genomics
Zanetti A, D'Avanzo F, Tomanin R.
europepmc   +1 more source

Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report. [PDF]

Mol Genet Metab Rep
Hattori Y, Kido J, Sugawara K, Sawada T, Matsumoto S, Nakamura K.   +5 more
europepmc   +1 more source

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement. [PDF]

Orphanet J Rare Dis
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM.   +7 more
europepmc   +1 more source

Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities. [PDF]

Orphanet J Rare Dis
Dempsey J, Daniels J, Katiri R, Thomas S, Metryka A, de Kruijf M, Wilkinson S, Jones SA, Bruce IA.   +8 more
europepmc   +1 more source