Results 91 to 100 of about 3,483 (174)

Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches. [PDF]

Clin Proteomics
Ramarajan MG, Garapati K, Ghose V, Pandey A.   +3 more
europepmc   +1 more source

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with <i>SGSH</i> and <i>GALNS</i> Deficiencies. [PDF]

Genes (Basel)
Awan FN, Zulfiqar S, Eiman L, Asif M, Hussain MS, Dahl N, Baig SM, Oda H.   +7 more
europepmc   +1 more source

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

JAMA Netw Open
Sakaguchi H, Kosuga M, So T, Gocho Y, Ono S, Yasue S, Mizuno S, Minato S, Higuchi T, Kim Y, Sekiguchi M, Yamada M, Deguchi T, Ogiwara H, Kurosawa K, Okuyama T, Iguchi A, Tomizawa D, Matsumoto K.   +18 more
europepmc   +1 more source

Correction to: Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63 + cells. [PDF]

Virchows Arch
Murgasova L, Hulkova H, Baresova V, Jurovcik M, Stritesky J, Jurickova K, Magner M, Sikora J.   +7 more
europepmc   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]

J Inherit Metab Dis
Schiffmann R.
europepmc   +1 more source

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens. [PDF]

Diseases
Dahshan M, Dahshan H, Basoglu A, Kadikoy H.   +3 more
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

Radiographic assessment of mucopolysaccharidoses: A pictorial review. [PDF]

World J Clin Pediatr
Teixeira de Castro Gonçalves Ortega AC, Amorim Moreira Alves G, Perera Molligoda Arachchige AS.   +2 more
europepmc   +1 more source

Assessment of bone health and bone mineral density in patients with mucopolysaccharidosis receiving enzyme replacement therapy. [PDF]

BMC Pediatr
El Feil NSA, Abuzaid Y, Mobarak A.
europepmc   +1 more source

Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study. [PDF]

Orphanet J Rare Dis
Blin M, Tardieu M, Lacombe D, Gorce M, Damaj L, Barth M, Genevaz D, Vibet S, Labarthe F.   +8 more
europepmc   +1 more source