Results 101 to 110 of about 20,963 (163)

Newborn screening for Fabry disease in Japan: an additional 3-year report. [PDF]

Mol Genet Metab Rep
Sawada T, Kido J, Sugawara K, Yoshida S, Inoue T, Hirose S, Nakamura K.   +6 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

Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China. [PDF]

J Clin Med
Zhou Y, Hao Z, Zhuang Q, Han B.
europepmc   +1 more source

Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-2023. [PDF]

Mol Genet Metab Rep
Royo Martínez S, Castillo-Montes M, Molt F, Cortes Rivera B, Ramírez-Santana M.   +4 more
europepmc   +1 more source

From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease. [PDF]

Int J Mol Sci
Casazza K, Kartha RV, Jarnes JR.
europepmc   +1 more source

On-site dissolved-gas analysis and electric-resistivity tomography as new tools to trace CO₂ mineral sequestration in aquifers. [PDF]

Sci Rep
Brennwald MS, Junker JS, Wang C, Kipfer R, Obermann A, Voigt M, Zappone A.   +6 more
europepmc   +1 more source

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis. [PDF]

JIMD Rep
Cohen JL, Beaman MM, Rodriguez-Rassi E, Stafford VG, Smith PB, Landstrom AP, Kishnani PS.   +6 more
europepmc   +1 more source

Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan. [PDF]

Int J Neonatal Screen
Konomura K, Tanaka M, Tajima G, Hoshino E.   +3 more
europepmc   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +1 more source

Erts Imagery Reviewed

, 1974
openaire   +1 more source