Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? by J. Politei, C. Durand, A.B. Schenone, A. Torres, J. Mukdsi, B.L. Thurberg

Subjects: Get full text

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses by Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer

Subjects: Get full text

Electrocardiographic Changes and Arrhythmia in Fabry Disease by Mehdi eNamdar

Subjects: Get full text

Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease by Naoko Inamura, Momoko Kito, Shinji Go, Soichiro Kishi, Masanori Hosokawa, Kiyofumi Asai, Nobuyuki Takakura, Hirohide Takebayashi, Junko Matsuda, Yasushi Enokido

Subjects: Get full text

Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases by Julia Sellin, Heike Schulze, Marie Paradis, Dominic Gosejacob, Cyrus Papan, Andrej Shevchenko, Olympia Ekaterina Psathaki, Achim Paululat, Melanie Thielisch, Konrad Sandhoff, Michael Hoch

Subjects: Get full text

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies by Feda E. Mohamed, Feda E. Mohamed, Fatma Al-Jasmi, Fatma Al-Jasmi, Fatma Al-Jasmi

Subjects: Get full text

What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview by Rafael Alves Cordeiro, Nilton Salles Rosa Neto, Henrique Ayres Mayrink Giardini

Subjects: Get full text

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots by Tristan Martineau, Bruno Maranda, Christiane Auray-Blais

Subjects: Get full text