Results 171 to 180 of about 32,710 (240)

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy. [PDF]

J Child Orthop
De Pellegrin M, Filisetti C, Cossutta M, Colombo M, Consiglieri G, Tucci F, Aiuti A, Bernardo ME.   +7 more
europepmc   +1 more source

Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy

Brain : a journal of neurology, 2018
Rebecca J Holley, S. Ellison, D. Fil, C. O’Leary, J. Mcdermott, N. Senthivel, Alex Langford-Smith, F. Wilkinson, Zelpha D’Souza, H. Parker, A. Liao, Samuel Rowlston, H. Gleitz, Shih-hsin Kan, P. Dickson, B. Bigger   +15 more
semanticscholar   +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

Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa. [PDF]

J Vitreoretin Dis
Seela JR, Moon JY, Montezuma SR.
europepmc   +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

Mucopolysaccharidosis IVA and glycosaminoglycans.

Molecular Genetics and Metabolism, 2017
S. Khan, C. Alméciga-Díaz, K. Sawamoto, W. Mackenzie, M. Theroux, C. Pizarro, R. Mason, T. Orii, S. Tomatsu   +8 more
semanticscholar   +1 more source

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia. [PDF]

Front Endocrinol (Lausanne)
Skaf K, Fardipour M, Schmidt P, Bolmer E, Keller A, Lampe C, Jurgens J, Lindschau M, Palm K, Ruckdeschel S, Javanmardi B, Mohnike K.   +11 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