Results 141 to 150 of about 21,161 (167)

Case Report: Compound heterozygous mutations in the <i>IDUA</i> gene causing mucopolysaccharidosis type I with uterine developmental abnormality. [PDF]

Front Pediatr
Xu Y, Li J, Wang L, Pan S, Fan Y.
europepmc   +1 more source

Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis. [PDF]

Mol Genet Metab Rep
Lusk EN, Percival KA, Weber CA, Prohofsky R, Minett MM, Snow EL.   +5 more
europepmc   +1 more source

Ultrasound-guided one-point puncture lumbosacral plexus block combined with laryngeal mask airway general anesthesia for thigh amputation in a patient with mucopolysaccharidosis: a case report. [PDF]

Front Med (Lausanne)
Gao S, Dong J, Gao C, Zhao X.
europepmc   +1 more source

Utility and applications of high-resolution anterior segment optical coherence tomography in unraveling the diagnosis of isolated bilateral corneal haze in children. [PDF]

Indian J Ophthalmol
Chaurasia S, Ramappa M.
europepmc   +1 more source

Audiologic evaluations of children with mucopolysaccharidosis

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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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Cells, 2020
Julie B Eisengart, Troy Lund, Paul Orchard   +2 more
exaly  

Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities

International Journal of Molecular Sciences, 2021
Paweł Zapolnik
exaly