Ruth Bargal
Shaare Zedek Medical Center(IL)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Calcium signaling and nucleotide metabolism, Cellular transport and secretion, Pancreatic function and diabetes, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → Identification of the gene causing mucolipidosis type IV(2000)399 cited
- → Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase(2005)209 cited
- → Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications(2008)108 cited
- → The clinical spectrum of fetal Niemann–Pick type C(2009)94 cited
- → Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population(2001)87 cited
- → Mucolipidosis type IV: Abnormal transport of lipids to lysosomes(1997)83 cited
- → I-cell disease: Deficiency of extracellular hydrolase phosphorylation(1979)82 cited
- → When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients(2006)77 cited
- → Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria(2014)69 cited
- → Phospholipids accumulation in mucolipidosis IV cultured fibroblasts(1987)38 cited