A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka‐Lesiak, Joanna Trubicka et al.|Journal of Inherited Metabolic Disease|2017Cited by 35
Genetic Diagnosis Guides Treatment of Autoimmune EnteropathyFabienne Charbit‐Henrion, Luc Mouthon, Manon Haas et al.|Clinical Gastroenterology and Hepatology|2022Cited by 25
Hematopoietic stem cell transplantation in 746 children with osteopetrosis: A study of the inborn errors working party of the EBMTRobert Chiesa, Amal Al-Seraihy, Hawazen Saleh Alsaedi et al.|Blood|2025Cited by 3