The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Autor: Julia-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Kuseyri Hübschmann O; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Olivella M; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, Vic, Spain., Pons R; First Department of Pediatrics, Aghia Sofia Hospital, University of Athens, Athens, Greece., Horvath G; Division of Biochemical Genetics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Lücke T; St. Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany., Fung CW; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong., Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong., Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain., Rovira-Remisa MM; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain., Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Mercimek-Andrews S; The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, Faculty of Medicine and Dentistry, Women and Children's Health Research Institute, Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada., Assmann B; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Stevanović G; Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia., Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università degli Studi di Roma La Sapienza, Rome, Italy., Brennenstuhl H; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Institute of Human Genetics, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Jung-Klawitter S; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Jeltsch K; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Sivri HS; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Garbade SF; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., García-Cazorla À; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Opladen T; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 447-462. Date of Electronic Publication: 2024 Mar 18.

Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective.

Autor: Akgun A; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Firat University, Elazig, Turkey., Gokcay G; Division of Nutrition and Metabolism, Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey., Mungan NO; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey., Sivri HS; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Tezer H; Department of Infectious Diseases, Faculty of Medicine, Gazi University, Ankara, Turkey., Zeybek CA; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey., Ezgu F; Division of Pediatric Metabolism and Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.

Publikováno v: Frontiers in public health [Front Public Health] 2023 Jan 30; Vol. 11, pp. 1092895. Date of Electronic Publication: 2023 Jan 30 (Print Publication: 2023).

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020)

Autor: Opladen, T, Lopez-Laso, E, Cortes-Saladelafont, E, Pearson, TS, Sivri, HS, Yildiz, Y, Assmann, B, Kurian, MA, Leuzzi, V, Heales, S, Pope, S, Porta, F, Garcia-Cazorla, A, Honzik, T, Pons, R, Regal, L, Goez, H, Artuch, R, Hoffmann, GF, Horvath, G, Thony, B, Scholl-Burgi, S, Burlina, A, Verbeek, MM, Mastrangelo, M, Friedman, J, Wassenberg, T, Jeltsch, K, Kulhanek, J, Hubschmann, OK

Publikováno v: Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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An amendment to this paper has been published and can be accessed via the original article.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::799a6a31605fd54dc3a1d7224da75fc6
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3895

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Autor: Akar HT; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Yıldız Y; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Güvenkaya G; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Çıkı K; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Kahraman AB; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Erdal İ; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Coşkun T; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Dursun A; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Sivri HS; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Tokatlı A; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey

Publikováno v: Balkan medical journal [Balkan Med J] 2022 Sep 09; Vol. 39 (5), pp. 345-350. Date of Electronic Publication: 2022 Aug 15.

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

Autor: Burton BK; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: bburton@luriechildrens.org., Hermida Á; Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), Santiago de Compostela, Spain., Bélanger-Quintana A; Metabolic Diseases Unit, Department of Paediatrics, Ramon y Cajal Hospital, Madrid, Spain., Bell H; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, Canada., Bjoraker KJ; 3:1 Neuropsychology Consultants, PLLC, Minneapolis, MN, USA., Christ SE; Department of Psychological Sciences, University of Missouri, Columbia, MO, USA., Grant ML; Department of Psychiatry, Drexel University College of Medicine, Philadelphia, PA, USA., Harding CO; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA., Huijbregts SCJ; Leiden Institute for Brain and Cognition, Leiden University, Leiden, the Netherlands., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., McNutt MC 2nd; McDermott Center for Human Growth and Development, UT Southwestern Medical Center, Dallas, TX, USA., Nguyen-Driver MD; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA., Santos Pessoa AL; Pediatric Neurology Service, Albert Sabin Children's Hospital, University of Ceará State, Fortaleza, Ceará, Brazil., Rocha JC; Nutrition and Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Portugal; Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, VIC, Australia., Sacharow S; CINTESIS-Center for Health Technology and Services Research, NOVA Medical School, Lisboa, Portugal; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia., Sanchez-Valle A; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal., Sivri HS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Vockley J; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Walterfang M; Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, USA; Melbourne Neuropsychiatry Centre, Department of Psychiatry, University of Melbourne, Melbourne, VIC, Australia; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Whittle S; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey., Muntau AC; Department of Pediatrics, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2022 Sep-Oct; Vol. 137 (1-2), pp. 114-126. Date of Electronic Publication: 2022 Jul 29.