A S Luder

Summary

Affiliation: Technion-Israel Institute of Technology
Country: Israel

Publications

  1. doi request reprint Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS
    A S Luder
    Department of Paediatrics, Ziv Medical Center, Safed and Faculty of Medicine, Technion, Haifa, Israel
    J Inherit Metab Dis 31:493-6. 2008
  2. ncbi request reprint Hypoxia and chest pain due to acute constipation: an underdiagnosed condition?
    A S Luder
    Department of Pediatrics, Ziv Government Hospital, Safed, Israel
    Pediatr Pulmonol 26:222-3. 1998
  3. ncbi request reprint Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association
    A S Luder
    Department of Pediatrics and Genetics, Ziv Medical Center, Safed, Israel
    J Pediatr 150:656-8, 658.e1. 2007
  4. ncbi request reprint Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism
    A S Luder
    Department of Pediatrics and Genetics Service, Ziv Medical Centre, Safed, Israel
    Cell Mol Biol (Noisy-le-grand) 55:19-22. 2009
  5. pmc Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates
    D Jeganathan
    J Med Genet 41:233-40. 2004

Collaborators

  • D Jeganathan
  • O Faeroe
  • I Amirav
  • E M K Chung
  • R M Gardiner
  • H M Mitchison
  • D Smyth
  • K Nielsen
  • R Chodhari
  • M Meeks
  • H Bisgaard

Detail Information

Publications5

  1. doi request reprint Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS
    A S Luder
    Department of Paediatrics, Ziv Medical Center, Safed and Faculty of Medicine, Technion, Haifa, Israel
    J Inherit Metab Dis 31:493-6. 2008
    ..It is possible that an active Cbl transport mechanism at the BBB exists, and that the amnionless (AMN) protein may be part of this mechanism, as it is in cobalamin transport in the terminal ileum. ..
  2. ncbi request reprint Hypoxia and chest pain due to acute constipation: an underdiagnosed condition?
    A S Luder
    Department of Pediatrics, Ziv Government Hospital, Safed, Israel
    Pediatr Pulmonol 26:222-3. 1998
    ..We believe that this is a common phenomenon but probably infrequently recognized...
  3. ncbi request reprint Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association
    A S Luder
    Department of Pediatrics and Genetics, Ziv Medical Center, Safed, Israel
    J Pediatr 150:656-8, 658.e1. 2007
    ..In one family with a classic cystic fibrosis (CF) phenotype, no evidence for CF Transmembrane Conductance Regulator (CFTR)-related mutations could be found. Chronic lung disease and CFTR-mutation negative CF may be associated with PD...
  4. ncbi request reprint Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism
    A S Luder
    Department of Pediatrics and Genetics Service, Ziv Medical Centre, Safed, Israel
    Cell Mol Biol (Noisy-le-grand) 55:19-22. 2009
    ..The biochemical and genetic data should be carefully evaluated in a specialized porphyria center...
  5. pmc Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates
    D Jeganathan
    J Med Genet 41:233-40. 2004