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