Shlomo Almashanu
Israel Ministry of Health(IL)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Thyroid Disorders and Treatments, Neonatal Health and Biochemistry, Neonatal Respiratory Health Research, Immunodeficiency and Autoimmune Disorders
Most-Cited Works
- → Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010(2021)225 cited
- → Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter(1999)205 cited
- → Functional Consequences of PRODH Missense Mutations(2005)149 cited
- → The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency(2001)117 cited
- → First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights(2017)78 cited
- → Characterization of Two Mutations Associated with Epimerase-Deficiency Galactosemia, by Use of a Yeast Expression System for Human UDP-Galactose-4-Epimerase(1997)66 cited
- → Molecular characterization of a unique patient with epimerase‐deficiency galactosaemia(1998)56 cited
- → Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy(2004)53 cited
- → Long-Term Outcome of Loss-of-Function Mutations in Thyrotropin Receptor Gene(2015)48 cited
- Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.(2013)