المؤلفون: Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; School of Medicine, Faculty of Medicine and Health Sciences, Tel-Aviv University, Tel Aviv, Israel. Electronic address: itay.tokatlylatzer@childrens.harvard.edu., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Italy. Electronic address: mita.bertoldi@univr.it., Blau N; Division of Metabolism, University Children's Hospital, Zürich, Switzerland; Children's Research Center, University Children's Hospital Zurich, Switzerland. Electronic address: Nenad.Blau@kispi.uzh.ch., DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: Melissa.DiBacco@childrens.harvard.edu., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: Sarah.Elsea@bcm.edu., García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: agarcia@sjdhospitalbarcelona.org., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA. Electronic address: mike.gibson@wsu.edu., Gropman AL; Division of Neurogenetics and Neurodevelopmental Disabilities, Children's National Hospital, Washington, D.C, USA. Electronic address: agropman@childrensnational.org., Hanson E; Human Neurobehavioral Core, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA. Electronic address: Ellen.Hanson@childrens.harvard.edu., Hoffman C; SSADH Association, Delafield, WI 53018, USA., Jeltsch K; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Kathrin.Jeltsch@med.uni-heidelberg.de., Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: nataliaalexandra.julia@sjd.es., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street, Dublin, Ireland. Electronic address: ina.knerr@cuh.ie., Lee HHC; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: hingcheong.lee@childrens.harvard.edu., Malaspina P; Department of Biology, Tor Vergata University, Via della Ricerca Scientifica s.n.c., Rome 00133, Italy. Electronic address: patrizia.malaspina@uniroma2.it., McConnell A; SSADH Association, Delafield, WI 53018, USA. Electronic address: alice@speragen.com., Opladen T; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Thomas.Opladen@med.uni-heidelberg.de., Oppebøen M; Oslo University Hospital, Oslo, Norway. Electronic address: maropp@ous-hf.no., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: alexander.rotenberg@childrens.harvard.edu., Walterfang M; Neuropsychiatry, Royal Melbourne Hospital, Melbourne, Australia; Department of Psychiatry, University of Melbourne, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Health and Medical Sciences, Edith Cowan University, Perth, Australia. Electronic address: Mark.Walterfang@mh.org.au., Wang-Tso L; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Wevers RA; Translational Metabolic Laboratory, Department Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands. Electronic address: Ron.Wevers@radboudumc.nl., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA. Electronic address: j.roullet@wsu.edu., Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: Phillip.Pearl@childrens.harvard.edu.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108363. Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Practice Guideline

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Succinate-Semialdehyde Dehydrogenase*/*deficiency, Succinate-Semialdehyde Dehydrogenase*/genetics , Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/therapy , Amino Acid Metabolism, Inborn Errors*/genetics , Developmental Disabilities*, Humans ; Consensus ; gamma-Aminobutyric Acid/metabolism ; Practice Guidelines as Topic

SCR Disease Name: succinic semialdehyde dehydrogenase deficiency

المؤلفون: Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel Aviv, Israel., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA., Afshar-Saber W; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Lee HHC; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., McGinty GE; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Arning E; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA., Tsuboyama M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Opladen T; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Jeltsch K; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA., Sahin M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. Phillip.Pearl@childrens.harvard.edu.

المصدر: Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Apr 24; Vol. 16 (1), pp. 21. Date of Electronic Publication: 2024 Apr 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/therapy , Amino Acid Metabolism, Inborn Errors*/physiopathology , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/metabolism , Developmental Disabilities* , Induced Pluripotent Stem Cells*/metabolism , Succinate-Semialdehyde Dehydrogenase*/deficiency , Succinate-Semialdehyde Dehydrogenase*/metabolism , Succinate-Semialdehyde Dehydrogenase*/genetics, Adolescent ; Animals ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mice ; Brain/metabolism ; Brain/physiopathology ; Disease Models, Animal ; GABAergic Neurons/metabolism ; gamma-Aminobutyric Acid/metabolism ; Neurodevelopmental Disorders/metabolism ; Neurodevelopmental Disorders/etiology ; Neurodevelopmental Disorders/genetics

SCR Disease Name: succinic semialdehyde dehydrogenase deficiency

المؤلفون: Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA., Cesaro S; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Strada Le Grazie 8, 37134, Verona, VR, Italy., DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Arning E; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Lee HHC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA., Opladen T; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Jeltsch K; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Strada Le Grazie 8, 37134, Verona, VR, Italy. mita.bertoldi@univr.it., Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. Phillip.Pearl@childrens.harvard.edu.

المصدر: Human genetics [Hum Genet] 2023 Dec; Vol. 142 (12), pp. 1755-1776. Date of Electronic Publication: 2023 Nov 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/metabolism , Amino Acid Metabolism, Inborn Errors*/pathology, Child ; Humans ; Male ; Female ; Developmental Disabilities/genetics ; Phenotype ; Succinate-Semialdehyde Dehydrogenase/genetics ; Succinate-Semialdehyde Dehydrogenase/metabolism

SCR Disease Name: succinic semialdehyde dehydrogenase deficiency

المؤلفون: Himmelreich N; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany., Bertoldi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Alfadhel M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alghamdi MA; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, SA, Saudi Arabia., Anikster Y; Metabolic Disease Unit, The Edmond and Lily Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Israel., Bao X; Department of Pediatrics, Peking University First Hospital, Beijing, China., Bashiri FA; Division of Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Zeev BB; Pediatric Neurology, Safra Pediatric Hospital, Sheba Medical Center, Sackler School of Medicine, Tel Aviv University, Ramat Gan, Israel., Bisello G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Ceylan AC; Ankara Yıldırım Beyazıt University, Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Chien YH; Department of Medical Genetics & Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Choy YS; Prince Court Medical Center, Kuala Lumpur, Malaysia., Elsea SH; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Flint L; AADC Research Trust, Surrey, UK., García-Cazorla À; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain., Gijavanekar C; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gümüş EY; Department of Pediatrics and Inherited Metabolic Diseases, Marmara University School of Medicine, Istanbul, Turkey., Hamad MH; Neurology Division, Pediatric Department, King Saud University Medical City, Riyadh, SA, Saudi Arabia., Hişmi B; Department of Pediatrics and Inherited Metabolic Diseases, Marmara University School of Medicine, Istanbul, Turkey., Honzik T; Dept. of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Hübschmann OK; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Hwu WL; Department of Medical Genetics & Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain., Jeltsch K; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Juliá-Palacios N; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain., Kasapkara ÇS; Department of Pediatric Metabolism, Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Ankara, Turkey., Kurian MA; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-Institute of Child Health & Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Kusmierska K; Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland., Liu N; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ngu LH; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Malaysia., Odom JD; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ong WP; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Malaysia., Opladen T; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Oppeboen M; Children's Department, Division of Child Neurology and Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Pearl PL; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pérez B; Centro de Diagnostico de Enfermedades Moleculares, CIBERER, IdiPAZ, Universidad Autonoma de Madrid, Madrid, Spain., Pons R; First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece., Rygiel AM; Department of Medical Genetics, Laboratory of Hereditary Diseases, Institute of Mother and Child, Warsaw, Poland., Shien TE; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Spaull R; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-Institute of Child Health & Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland., Tabarki B; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Tangeraas T; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Thöny B; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland., Wassenberg T; UZ Brussel, Department of Pediatrics, Brussels, Belgium., Wen Y; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, SA, Saudi Arabia., Yakob Y; Molecular Diagnostics Unit, Specialised Diagnostics Centre, Institute for Medical Research, National Institute of Health, Ministry of Health, Malaysia., Yin JGC; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Zeman J; Dept. of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Blau N; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Jul; Vol. 139 (3), pp. 107624. Date of Electronic Publication: 2023 Jun 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Aromatic-L-Amino-Acid Decarboxylases* , Amino Acid Metabolism, Inborn Errors*/epidemiology , Amino Acid Metabolism, Inborn Errors*/genetics, Humans ; Prevalence ; Dopamine/metabolism ; Genotype ; Amino Acids/genetics

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bertoldi M; Department of Neuroscience, Biomedicine, and Movement Sciences, University of Verona, Verona, Italy., DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Arning E; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, Texas, USA., Tsuboyama M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., MacMullin P; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Sachee D; Harvard College, Harvard University, Cambridge, Massachusetts, USA., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA., Lee HHC; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA., Aygun D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Opladen T; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Jeltsch K; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA., Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

المصدر: Epilepsia [Epilepsia] 2023 Jun; Vol. 64 (6), pp. 1516-1526. Date of Electronic Publication: 2023 Apr 04.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Sodium Oxybate* , Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/metabolism , Epilepsy*/metabolism, Humans ; Child ; Developmental Disabilities ; gamma-Aminobutyric Acid/metabolism ; Aminobutyrates ; Seizures

SCR Disease Name: succinic semialdehyde dehydrogenase deficiency

المؤلفون: Tristán-Noguero A; Synaptic Metabolism Laboratory, Sant Joan de Déu Foundation, Research Pediatric Institute (IPR), Sant Joan de Déu Hospital, Barcelona, Spain., Borràs E; Proteomics Unit, Center for Genomics Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain., Molero-Luis M; Department of Clinical Biochemistry, IPR and CIBERER-ISCIII, Sant Joan de Déu Hospital, Barcelona, Spain., Wassenberg T; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands., Peters T; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands., Verbeek MM; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.; Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands., Willemsen M; Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Opladen T; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital, Heidelberg, Germany., Jeltsch K; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital, Heidelberg, Germany., Pons R; First Department of Pediatrics, Pediatric Neurology Unit, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece., Thony B; Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland., Horvath G; Department of Pediatrics, University of British Columbia, Vancouver, Canada., Yapici Z; Division of Child Neurology, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Friedman J; Departments of Neuroscience and Pediatrics, University of California, San Diego, California, USA.; Rady Children's Hospital and Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Hyland K; Medical Neurogenetics, LLC, Atlanta, Georgia, USA., Agosta GE; Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), and CIBERER, Córdoba, Spain., Artuch R; Department of Clinical Biochemistry, IPR and CIBERER-ISCIII, Sant Joan de Déu Hospital, Barcelona, Spain., Sabidó E; Proteomics Unit, Center for Genomics Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain., García-Cazorla À; Synaptic Metabolism Laboratory, Sant Joan de Déu Foundation, Research Pediatric Institute (IPR), Sant Joan de Déu Hospital, Barcelona, Spain.; Neurometabolic Unit, Neurology Department, IPR, CIBER ('Centro de investigación Biomédica en Red') of Rare Diseases and Carlos III Healthcare Institute (CIBERER-ISCIII), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Sant Joan de Déu Hospital, Barcelona, Spain.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 690-703. Date of Electronic Publication: 2020 Nov 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors* , Dystonic Disorders*, Biomarkers ; Humans ; Proteomics ; Severity of Illness Index

المؤلفون: Wassenberg T; Department of Neurology and Child Neurology, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Molero-Luis M; Department of Clinical Biochemistry, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Jeltsch K; Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany., Hoffmann GF; Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany., Assmann B; Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany., Blau N; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany., Garcia-Cazorla A; Department of Child Neurology, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Artuch R; Department of Clinical Biochemistry, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Pons R; First Department of Pediatrics, Pediatric Neurology Unit, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, USA., Leuzzi V; Department of Pediatrics and Child Neuropsychiatry, Sapienza Università di Roma, Rome, Italy., Mastrangelo M; Department of Pediatrics and Child Neuropsychiatry, Sapienza Università di Roma, Rome, Italy., Pearl PL; Department of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Harvard Medical School, Boston, USA., Lee WT; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Kurian MA; Developmental Neurosciences, UCL- Institute of Child Health and Department of Neurology, Great Ormond Street Hospital for Children NHS Foundations Trust, London, UK., Heales S; Laboratory Medicine, Great Ormond Street Hospital and Neurometabolic Unit, National Hospital, London, UK., Flint L; AADC research trust, London, UK., Verbeek M; Department of Neurology and Child Neurology, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department Laboratory Medicine, Alzheimer Centre, Radboud university medical center, Nijmegen, The Netherlands., Willemsen M; Department of Neurology and Child Neurology, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Opladen T; Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. Thomas.Opladen@med.uni-heidelberg.de.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jan 18; Vol. 12 (1), pp. 12. Date of Electronic Publication: 2017 Jan 18.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors/*diagnosis , Amino Acid Metabolism, Inborn Errors/*therapy , Aromatic-L-Amino-Acid Decarboxylases/*deficiency, Age of Onset ; Amino Acid Metabolism, Inborn Errors/blood ; Amino Acid Metabolism, Inborn Errors/cerebrospinal fluid ; Aromatic-L-Amino-Acid Decarboxylases/blood ; Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid ; Cholinergic Antagonists/therapeutic use ; Dopamine Agonists/therapeutic use ; Guidelines as Topic ; Humans ; Monoamine Oxidase Inhibitors/therapeutic use ; Prolactin/blood ; Prolactin/cerebrospinal fluid ; Pyridoxal Phosphate/therapeutic use

SCR Disease Name: Aromatic amino acid decarboxylase deficiency