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 usΒ here.

Clinician Directory
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                       
Name Institution Department City/State Email
Austria
Saskia Wortmann University Children's Hospital, Paracelsus Medical University SalzburgPediatrics Salzburg
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Canada
Daniela Buhas McGill University Health CenterMedical Genetics MontrΓ©al
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Murray Potter McMaster UniversityPediatrics Hamilton
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Indonesia
Bobby Pamudi Kandou General Hospital, Sam Ratulangi UniversityPediatrics Manado
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Japan
Takashi Hamazaki Osaka Metropolitan University HospitalPediatrics Osaka
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Ayano Inui Saiseikai Yokohamashi Tobu HospitalPediatric Hepatology and Gastroenterology Yokohama
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Jun Kido Kumamoto University HospitalPediatrics Kumamoto
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Atsuo Kikuchi Tohoku University School of MedicinePediatrics Miyagi
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Kei Murayama Chiba Children's HospitalMetabolism Chiba
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Masayoshi Nagao National Hospital Organisation Hokkaido Medical CenterPediatric Genetics and Metabolism Center Hokkaido
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Yoko Nakajima Fujita Health UniversityPediatrics Aichi
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Chikahiko Numakura Saitama Medical University HospitalGenomic Medicine Saitama
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Chikahiko Numakura Yamagata University HospitalPediatrics Yamagata
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Kimihiko Oishi The Jikei University School of MedicinePediatrics Tokyo
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Yoichi Wada Tohoku University School of MedicinePediatrics Sendai
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Yoriko Watanabe Kurume University HospitalPediatrics Fukuoka
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Masahide Yazaki Institute for Biomedical Sciences, Shinshu UniversityBiological Sciences for Intractable Neurological Diseases Nagano
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Malaysia
Huey Yin Leong Hospital Kuala LumpurGenetics Kuala Lumpur
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Netherlands
Margreet Wagenmakers Erasmus MC, Universitair Medisch Centrum RotterdamInternal MedicineRotterdam
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Republic of Ireland
Joanne Hughes Children’s Health Ireland (CHI) at Temple StreetMetabolic Diseases Dublin
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Portugal
Dulce Quelhas Centro Hospitalar UniversitΓ‘rio de Santo AntΓ³nioBiochemical Genetics Porto
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Singapore
Li Meng Denise Goh Khoo Teck Puat - National University Children's Medical Institute, National University HospitalPediatrics Singapore
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Ee Shien Tan KK Women's and Children's HospitalPediatric Genetics Singapore
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Switzerland
Johannes HΓ€berle University Children's Hospital ZΓΌrichMetabolismZΓΌrich
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Taiwan
Yin Hsiu Chien National Taiwan University HospitalMedical Genetics and Pediatrics Taipei
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Dau-Ming Niu Taipei Veterans General HospitalPediatricsTaipei
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Thailand
Nithiwat Vatanavicharn Siriraj HospitalPediatrics Bangkok
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United Kingdom
Julien Baruteau Great Ormond Street Hospital for ChildrenMetabolic Medicine London
Spyros Batzios Great Ormond Street Hospital for ChildrenMetabolic Medicine London
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Robin Lachmann Charles Dent Metabolic Unit, University College London HospitalsInherited Metabolic Disease London
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Karolina Stepien Mark Holland Metabolic Unit, Salford Royal NHS Foundation TrustMetabolic Medicine Manchester
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United States of America
Nicholas Ah Mew Rare Disease Institute, Children’s National HospitalGenetics and Metabolism Washington D.C.
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Jaya Ganesh Mt. Sinai Icahn School of MedicinePediatrics; Genetics and Genomics New York
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Nicola Longo University of California Los AngelesHuman Genetics California
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Laura Mackay Dallas Children’s Medical Center, UT Southwestern Medical CenterGenetics and Metabolism Texas
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Luis Umana Dallas Children’s Medical Center, UT Southwestern Medical CenterGenetics and Metabolism Texas
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Vietnam
Anh Hoa Pham Nguyen National Children’s Hospital HanoiHepatology Hanoi
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