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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Ghosh, Shereen G; Lee, Sangmoon; Fabunan, Rudy; Chai, Guoliang; Zaki, Maha S; Abdel-Salam, Ghada; Sultan, Tipu; Ben-Omran, Tawfeg; Alvi, Javeria Raza; McEvoy-Venneri, Jennifer; Stanley, Valentina; Patel, Aakash; Ross, Danica; Ding, Jeffrey; Jain, Mohit; Pan, Daqiang; Lübbert, Philipp; Kammerer, Bernd; Wiedemann, Nils; Verhoeven-Duif, Nanda M; Jans, Judith J; Murphy, David; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Ibrahim, Khalid; Waters, Elizabeth R; Maroofian, Reza; Gleeson, Joseph G.
Afiliação
  • Ghosh SG; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.
  • Lee S; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Fabunan R; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.
  • Chai G; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Zaki MS; Biology Department, San Diego State University, San Diego, CA, USA.
  • Abdel-Salam G; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.
  • Sultan T; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Ben-Omran T; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Alvi JR; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • McEvoy-Venneri J; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan.
  • Stanley V; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.
  • Patel A; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan.
  • Ross D; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.
  • Ding J; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Jain M; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.
  • Pan D; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Lübbert P; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.
  • Kammerer B; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Wiedemann N; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.
  • Verhoeven-Duif NM; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Jans JJ; Departments of Medicine and Pharmacology, University of California-San Diego, La Jolla, CA, USA.
  • Murphy D; Departments of Medicine and Pharmacology, University of California-San Diego, La Jolla, CA, USA.
  • Toosi MB; Centre for Integrative Signalling Analysis (CISA), University of Freiburg, Freiburg, Germany.
  • Ashrafzadeh F; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Imannezhad S; Centre for Integrative Signalling Analysis (CISA), University of Freiburg, Freiburg, Germany.
  • Karimiani EG; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Ibrahim K; CIBSS Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.
  • Waters ER; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Maroofian R; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Gleeson JG; Department of Clinical and Movement Neurosciences, UCL Institute of Neurology, Queen Square, London, UK.
Genet Med ; 23(3): 524-533, 2021 03.
Article em En | MEDLINE | ID: mdl-33188300
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article