Results 191 to 200 of about 32,710 (240)

Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts. [PDF]

Int J Neonatal Screen
Beauregard-Lacroix É, Menello C, Steffensen M, Lin HY, Chuang CK, Lin SP, Ficicioglu C.   +6 more
europepmc   +1 more source

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador. [PDF]

Diagnostics (Basel)
Castro Moreira ML, Montenegro YHA, Salatino-Oliveira A, Montano HQ, Bareiro RFN, Santos-Lopes SSD, Silva TRD, Azevedo LKS, Silva KBLD, Moreira AWA, Araujo SS, Kubaski F, Trapp FB, Brusius-Facchin AC, Sebastião FM, Michelin-Tirelli K, Baldo G, Giugliani R, Palhares D.   +18 more
europepmc   +1 more source

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice. [PDF]

Clin Genet
Beauregard-Lacroix É, Dubot P, Pshezhetsky AV, Campeau PM.   +3 more
europepmc   +1 more source

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study. [PDF]

Orphanet J Rare Dis
Swanepoel AC, Hendriksz CJ, Mukhwana R, Oduwole A, Abdalla AT, Ameyaw E, Muze KC, Auruku A, Pinto F, Joel D, Aleksovska V, Collin-Histed T, Odero R, Conradie EH.   +13 more
europepmc   +1 more source

Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study. [PDF]

Orphanet J Rare Dis
Liang Y, Yang YL, Zou CC, Liu L, Jiao Y, Wang Y, Liu X, Luo XP.   +7 more
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

The first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature. [PDF]

BMC Neurol
Wang Y, Zhou W, Du C, Tang Y, Zhu K.
europepmc   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source