Results 101 to 110 of about 3,483 (174)

Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome. [PDF]

Children (Basel)
Rigante D, Veredice C.
europepmc   +1 more source

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +1 more source

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study. [PDF]

Mol Genet Metab Rep
Donti TR, DiPerna JC, Hegde MR, Revvity Omics, Inc.   +4 more
europepmc   +1 more source

Mucopolysaccharidoses

, 2011
Megan A. Brockel, James J. Fehr
  +4 more sources

Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. [PDF]

Genes (Basel)
Dicorato MM, De Sario G, Carella MC, Guaricci AI, Ciccone MM, Forleo C, D'Amato G, Faienza MF.   +7 more
europepmc   +1 more source

Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case. [PDF]

Radiol Case Rep
Boujida N, Jabour S, Elaitari K, Allali N, Chat L, Haddad SE.   +5 more
europepmc   +1 more source

Polysomnographic Analysis of Sleep-Disordered Breathing In Children With Mucopolysaccharidoses in Qatar: A Retrospective Study. [PDF]

Cureus
Asir N, Al-Naimi AR.
europepmc   +1 more source

Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report. [PDF]

Clin Case Rep
Jarrar L, Mutan S, Malhis L, Mashni A, Ajlone A, Zaid M, Abuaisha S.   +6 more
europepmc   +1 more source

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report. [PDF]

Radiol Case Rep
Gebresilassie MY, Mehammed AH, Damtie MY, Midekso HD, Bezabih NA, Abera MT, Worku AB.   +6 more
europepmc   +1 more source