We understand that finding a clinician with knowledge and experience in citrin deficiency (CD) can be challenging. This directory can help you easily connect with doctors in your country or region who are familiar with the condition and its management.

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
Austria

Saskia Wortmann

Department of Pediatrics, University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg

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Canada

Daniela Buhas

Department of Medical Genetics, McGill University Health Center, Montréal

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Murray Potter

Department of Pediatrics, McMaster University, Hamilton

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Indonesia

Bobby Pamudi

Department of Pediatrics, Kandou General Hospital, Sam Ratulangi University, Manado

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Japan

Takashi Hamazaki

Department of Pediatrics, Osaka Metropolitan University Hospital, Osaka

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Ayano Inui

Division of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital, Yokohama

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Jun Kido

Department of Pediatrics, Kumamoto University Hospital, Kumamoto

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Atsuo Kikuchi

Department of Pediatrics, Tohoku University School of Medicine, Sendai

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Kei Murayama

Department of Metabolism, Chiba Children's Hospital, Chiba

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Masayoshi Nagao

Pediatric Genetics and Metabolism Center, National Hospital Organisation Hokkaido Medical Center, Hokkaido

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Yoko Nakajima

Department of Pediatrics, Fujita Health University, Aichi

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Chikahiko Numakura

Department of Genomic Medicine, Saitama Medical University Hospital, Saitama

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Chikahiko Numakura

Department of Pediatrics, Yamagata University Hospital, Yamagata

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Kimihiko Oishi

Department of Pediatrics, The Jikei University School of Medicine, Tokyo

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Yoichi Wada

Department of Pediatrics, Tohoku University School of Medicine, Sendai

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Yoriko Watanabe

Department of Pediatrics, Kurume University Hospital, Fukuoka

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Masahide Yazaki

Institute for Biomedical Sciences, Shinshu University, Nagano

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Malaysia

Leong Huey Yin

Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur

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Netherlands

Margreet Wagenmakers

Department of Internal Medicine, Erasmus MC, Universitair Medisch Centrum Rotterdam, Rotterdam

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Portugal

Dulce Quelhas

Biochemical Genetics Laboratory, Centro Hospitalar Universitário de Santo António, Porto

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Republic of Ireland

Joanne Hughes

Department of Metabolic Diseases, Children’s Health Ireland (CHI) at Temple Street, Dublin

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Singapore

Denise Goh Li Meng

Department of Pediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, Singapore

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Tan Ee Shien

Department of Pediatric Genetics, KK Women's and Children's Hospital, Singapore

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Switzerland

Johannes Häberle

Division of Metabolism, University Children's Hospital Zurich, Zurich

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Taiwan

Chien Yin Hsiu

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei

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Dau-Ming Niu

Department of Pediatrics, Taipei Veterans General Hospital, Taipei

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Thailand

Nithiwat Vatanavicharn

Department of Pediatrics, Siriraj Hospital, Bangkok

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United Kingdom

Julien Baruteau

Metabolic Department, Great Ormond Street Hospital for Children, London

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Spyros Batzios

Metabolic Department, Great Ormond Street Hospital for Children, London

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Robin Lachmann

Charles Dent Metabolic Unit, University College London, London

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Karolina Stepien

Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Manchester

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United States

Nicholas Ah Mew

Rare Disease Institute, Children’s National Hospital, Washington D.C.

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Jaya Ganesh

Department of Pediatrics, Genetics and Genomics, Mt. Sinai Icahn School of Medicine, New York

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Nicola Longo

Department of Human Genetics, University of California Los Angeles, California

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Laura Mackay

Genetics and Metabolism Clinic, Dallas Children’s Medical Center, UT Southwestern Medical Center, Texas

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Luis Umana

Genetics and Metabolism Clinic, Dallas Children’s Medical Center, UT Southwestern Medical Center, Texas

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Vietnam

Nguyen Pham Anh Hoa

Hepatology Department, National Children’s Hospital Hanoi, Hanoi

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