Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity

Yoriaki Komeda, Hideki Ishikawa, Teruhiko Yoshida, Mineko Ushiama, Saki Yoshida, Kenji Nomura, Masashi Kono, Shunsuke Omoto, Mamoru Takenaka, Satoru Hagiwara, Hiroshi Kashida, Masatoshi Kudo

Article2026

Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort

Zahra Beyzaei, Bita Geramizadeh, Seyed Mohsen Dehghani, SOROUR INALOO, Ralf Weiskirchen