Citrin deficiency (CD) is a rare and complex condition, often making it difficult for patients and families to find specialized care. Citrin Foundation is building a directory of clinicians experienced in CD to help patients access expert care and foster collaboration among medical professionals.

If you are a clinician with experience treating CD and would like to be included in our directory, please reach out to us here.

Clinician Directory
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                 
Name Institution Department City/State Email
Austria
Saskia Wortmann University Children's Hospital, Paracelsus Medical University SalzburgPediatrics Salzburg
Canada
Daniela Buhas McGill University Health CenterMedical Genetics Montréal
Murray Potter McMaster UniversityPediatrics Hamilton
Indonesia
Bobby Pamudi Kandou General Hospital, Sam Ratulangi UniversityPediatrics Manado
Japan
Takashi Hamazaki Osaka Metropolitan University HospitalPediatrics Osaka
Ayano Inui Saiseikai Yokohamashi Tobu HospitalPediatric Hepatology and Gastroenterology Yokohama
Jun Kido Kumamoto University HospitalPediatrics Kumamoto
Atsuo Kikuchi Tohoku University School of MedicinePediatrics Miyagi
Kei Murayama Chiba Children's HospitalMetabolism Chiba
Masayoshi Nagao National Hospital Organisation Hokkaido Medical CenterPediatric Genetics and Metabolism Center Hokkaido
Yoko Nakajima Fujita Health UniversityPediatrics Aichi
Chikahiko Numakura Saitama Medical University HospitalGenomic Medicine Saitama
Chikahiko Numakura Yamagata University HospitalPediatrics Yamagata
Kimihiko Oishi The Jikei University School of MedicinePediatrics Tokyo
Yoichi Wada Tohoku University School of MedicinePediatrics Sendai
Yoriko Watanabe Kurume University HospitalPediatrics Fukuoka
Masahide Yazaki Institute for Biomedical Sciences, Shinshu UniversityBiological Sciences for Intractable Neurological Diseases Nagano
Malaysia
Huey Yin Leong Hospital Kuala LumpurGenetics Kuala Lumpur
Netherlands
Margreet Wagenmakers Erasmus MC, Universitair Medisch Centrum RotterdamInternal MedicineRotterdam
Republic of Ireland
Joanne Hughes Children’s Health Ireland (CHI) at Temple StreetMetabolic Diseases Dublin
Singapore
Li Meng Denise Goh Khoo Teck Puat - National University Children's Medical Institute, National University HospitalPediatrics Singapore
Ee Shien Tan KK Women's and Children's HospitalPediatric Genetics Singapore
Switzerland
Johannes Häberle University Children's Hospital ZürichMetabolismZürich
Taiwan
Yin Hsiu Chien National Taiwan University HospitalMedical Genetics and Pediatrics Taipei
Dau-Ming Niu Taipei Veterans General HospitalPediatricsTaipei
Thailand
Nithiwat Vatanavicharn Siriraj HospitalPediatrics Bangkok
United Kingdom
Julien Baruteau Great Ormond Street Hospital for ChildrenMetabolic Medicine London
Spyros Batzios Great Ormond Street Hospital for ChildrenMetabolic Medicine London
Robin Lachmann Charles Dent Metabolic Unit, University College London HospitalsInherited Metabolic Disease London
Karolina Stepien Mark Holland Metabolic Unit, Salford Royal NHS Foundation TrustMetabolic Medicine Manchester
United States of America
Nicholas Ah Mew Rare Disease Institute, Children’s National HospitalGenetics and Metabolism Washington D.C.
Jaya Ganesh Mt. Sinai Icahn School of MedicinePediatrics; Genetics and Genomics New York
Nicola Longo University of California Los AngelesHuman Genetics California
Laura Mackay Dallas Children’s Medical Center, UT Southwestern Medical CenterGenetics and Metabolism Texas
Luis Umana Dallas Children’s Medical Center, UT Southwestern Medical CenterGenetics and Metabolism Texas
Vietnam
Anh Hoa Pham Nguyen National Children’s Hospital HanoiHepatology Hanoi