Deybach, Jeancharles Charles P.

Top Publications

Top Publications Authored or Co-Authored by "Deybach, Jeancharles Charles P."

• C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

  American Journal of Human Genetics, Volume 83, No. 3, Year 2008, Citations 236
• Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: Mutations causing acute intermittent porphyria and specific intragenic polymorphisms

  Human Genetics, Volume 107, No. 2, Year 2000, Citations 17
• Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients

  Human Heredity, Volume 54, No. 2, Year 2002, Citations 16
• Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network

  Journal of Inherited Metabolic Disease, Volume 46, No. 4, Year 2023, Citations 5
• Drugs and porphyria

  Molecular Aspects of Medicine, Volume 11, No. 1-2, Year 1990, Citations 3