Results 181 to 190 of about 58,222 (243)

Gene therapy for lysosomal storage disorders

, 2011
Angela Gritti
openalex   +2 more sources

Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report. [PDF]

Neurol Int
Alharthi AS, Hassan CI, Alsharkawy AA, Alzahrani SDS, Alzahrani SA.   +4 more
europepmc   +1 more source

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. [PDF]

Mol Genet Metab Rep
Sharma A, Vashist M, Kaushik R, Rohilla G, Narwal S.   +4 more
europepmc   +1 more source

A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders

, 2015
Jeffrey A. Rappaport, Rachel L. Manthe, Melani Solomon, Carmen Garnacho, Silvia Muro   +4 more
openalex   +2 more sources

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1. [PDF]

J Inherit Metab Dis
Casazza K, Giugliani R, Regier DS, Jarnes J.   +3 more
europepmc   +1 more source

Cell disorders in lysosomal storage diseases

, 2012
Élise Roy, HEARD, Jean Michel
openalex   +1 more source

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

, 2012
Thomas P. Mechtler, Thomas F. Metz, Hannes G. Müller, Katharina M. Ostermann, Rene Ratschmann, Víctor R. De Jesús, Bori Shushan, Joseph M. Di Bussolo, Joseph L. Herman, K. Herkner, David C. Kasper   +10 more
openalex   +2 more sources

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature. [PDF]

Mol Cell Pediatr
El-Mezayen M, Tawfik AM, Hadhoud AM, Gerges VM, Afify MH.   +4 more
europepmc   +1 more source

Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease. [PDF]

Int Breastfeed J
Bachmann M, Kasper D, Scholl-Bürgi S, Margreitter J, Höller A, Löscher W, Karall D, Zöggeler T.   +7 more
europepmc   +1 more source

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review. [PDF]

Mol Genet Metab Rep
Cappozzo F, Severino M, Gennaro E, Faravelli F, Martinez Popple M, Schiaffino MC, Madeo A, La Rosa A.   +7 more
europepmc   +1 more source