Results 191 to 200 of about 335,217 (205)

Cataracts in Morquio syndrome (mucopolysaccharidosis IV A).

Ophthalmic paediatrics and genetics, 1993
Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with skeletal deformities, odontoid anomalies, hearing loss and corneal clouding, the authors found almost identical lens opacities in all three patients.
H, Olsen, K, Baggesen, A K, Sjolie
openaire   +1 more source

A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)

Pediatric Radiology, 2023
Sirwa Padash, Haron Obaid, Robert D. E. Henderson, Yaseen Padash, S. Adams, S. Miller, P. Babyn   +6 more
semanticscholar   +1 more source

Mucopolysaccharidosis Type 4 (Morquio Syndrome): A Case Report from Kashmir Valley

Academic Journal of Pediatrics & Neonatology
Ejaz Alam, Shoiab Mohd Patto, Abid Hussain Bhat, Mohammad Salem Baba, Basharat Q Dar, Mohammad Hayat Bhat, Khursheed Ahmed Bhat, Shahnawaz Mir   +7 more
semanticscholar   +1 more source

The Morquio A Registry Study (MARS): Improving the understanding of Morquio syndrome type A

Molecular Genetics and Metabolism, 2015
Sue Graham, Abigail Waite, Omowunmi Loba-Olopade, JoEllen Hunt, Adrian Quartel   +4 more
openaire   +1 more source

Morquio A – ein seltenes metabolisches Syndrom

2023
openaire   +1 more source

A case of a presumed diagnosis of Morquio syndrome

Molecular Genetics and Metabolism, 2023
Linda Spencer, David Stockton
openaire   +1 more source

Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.

Molecular Genetics and Metabolism, 2009
R. Bank, J. Groener, J. V. van Gemund, Petra D Maaswinkel, K. Hoeben, H. Schut, V. Everts   +6 more
semanticscholar   +1 more source

Morquio A (MPS IVA) Syndrome

Mary C. Theroux, Abraham Oommen, Sabina Dicindio, Lauren W. Averill   +3 more
openaire   +1 more source

An evidence-based individual treatment trial with adalimumab in a patient with Morquio syndrome

Molecular Genetics and Metabolism
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Georg Zimmermann, Florian B. Lagler   +7 more
semanticscholar   +1 more source

Management of Neuropsychiatric Symptoms Associated With Morquio Syndrome.

The Primary Care Companion For CNS Disorders
Grace L Casado, M. Haymete, Darlon Jan, Kye Kim   +3 more
semanticscholar   +1 more source