المؤلفون: Appleton E; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Khosousi S; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Ta M; Center for Alzheimer's and Related Dementias, National Institute On Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; DataTecnica LLC, Washington, DC, USA.; Laboratory of Neurogenetics, National Institute On Aging, National Institutes of Health, Bethesda, MD, USA., Nalls M; Center for Alzheimer's and Related Dementias, National Institute On Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; DataTecnica LLC, Washington, DC, USA.; Laboratory of Neurogenetics, National Institute On Aging, National Institutes of Health, Bethesda, MD, USA., Singleton AB; Center for Alzheimer's and Related Dementias, National Institute On Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Laboratory of Neurogenetics, National Institute On Aging, National Institutes of Health, Bethesda, MD, USA., Sturchio A; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.; James J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA., Markaki I; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Paslawski W; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Iwaki H; Center for Alzheimer's and Related Dementias, National Institute On Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; DataTecnica LLC, Washington, DC, USA.; Laboratory of Neurogenetics, National Institute On Aging, National Institutes of Health, Bethesda, MD, USA., Svenningsson P; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. per.svenningsson@ki.se.; Basic and Clinical Neuroscience, King's College London, London, UK. per.svenningsson@ki.se.

المصدر: Translational neurodegeneration [Transl Neurodegener] 2024 Jun 11; Vol. 13 (1), pp. 31. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Letter

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101591861 Publication Model: Electronic Cited Medium: Print ISSN: 2047-9158 (Print) Linking ISSN: 20479158 NLM ISO Abbreviation: Transl Neurodegener Subsets: MEDLINE

مواضيع طبية MeSH: Parkinson Disease*/cerebrospinal fluid , Parkinson Disease*/blood , Parkinson Disease*/diagnosis , Prodromal Symptoms* , Dopa Decarboxylase*/genetics, Humans ; Female ; Male ; Middle Aged ; Aged ; Biomarkers/cerebrospinal fluid ; Biomarkers/blood

المؤلفون: Shebl N; Institute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt., Salama M; Institute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt. Mohamed-Salama@aucegypt.edu.; Global Brain Health Institute (GBHI), Trinity College Dublin, Dublin 2, Ireland. Mohamed-Salama@aucegypt.edu.; Faculty of Medicine, Mansoura University, El Mansûra, Egypt. Mohamed-Salama@aucegypt.edu.

المصدر: Acta neuropathologica [Acta Neuropathol] 2024 May 18; Vol. 147 (1), pp. 88. Date of Electronic Publication: 2024 May 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Parkinson Disease*/cerebrospinal fluid , Parkinson Disease*/diagnosis , Parkinson Disease*/blood , Proteomics*/methods , Biomarkers*/cerebrospinal fluid , Biomarkers*/blood , Metabolomics*/methods , Dopa Decarboxylase*, Humans

المؤلفون: Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Misawa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; RIKEN Center for Advanced Intelligence Project, 1-4-1 Nihonbashi, Chuo-ku, Tokyo, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Hamanaka K; Institute for the Advanced Study of Human Biology, Kyoto University, Kyoto, Japan.; Department of Medical Systems Genomics, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. miyatake@yokohama-cu.ac.jp.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan. miyatake@yokohama-cu.ac.jp., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.

المصدر: Journal of human genetics [J Hum Genet] 2024 Apr; Vol. 69 (3-4), pp. 153-157. Date of Electronic Publication: 2024 Jan 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Dopa Decarboxylase*/genetics , Amino Acid Metabolism, Inborn Errors*/genetics, Aromatic-L-Amino-Acid Decarboxylases/*deficiency, Humans ; Introns ; Mutation, Missense

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Paslawski W; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Khosousi S; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Old Age Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Hertz E; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Markaki I; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Boxer A; Memory and Aging Center, University of California, San Francisco, San Francisco, CA, USA., Svenningsson P; Laboratory of Translational Neuropharmacology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. per.svenningsson@ki.se.; Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. per.svenningsson@ki.se.

المصدر: Translational neurodegeneration [Transl Neurodegener] 2023 Sep 04; Vol. 12 (1), pp. 42. Date of Electronic Publication: 2023 Sep 04.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101591861 Publication Model: Electronic Cited Medium: Print ISSN: 2047-9158 (Print) Linking ISSN: 20479158 NLM ISO Abbreviation: Transl Neurodegener Subsets: MEDLINE

مواضيع طبية MeSH: Dopa Decarboxylase*/cerebrospinal fluid , Midkine*/cerebrospinal fluid , Parkinson Disease*/diagnosis, Humans ; Dopamine

المؤلفون: Himmelreich N; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany., Montioli R; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address: riccardo.montioli@univr.it., Garbade SF; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany. Electronic address: sven.garbade@med.uni-heidelberg.de., Kopesky J; Medical Affairs, PTC Therapeutics, Inc., South Plainfield, NJ, USA. Electronic address: jkopesky@ptcbio.com., Elsea SH; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: sarah.elsea@bcm.edu., Carducci C; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy. Electronic address: carla.carducci@uniroma1.it., Voltattorni CB; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address: carla.borrivoltattorni@univr.it., 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] 2022 Dec; Vol. 137 (4), pp. 359-381. Date of Electronic Publication: 2022 Nov 12.

نوع المنشور: Journal Article

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: Amino Acid Metabolism, Inborn Errors*/genetics , Dopa Decarboxylase*/genetics , Dopa Decarboxylase*/therapeutic use, Humans ; Amino Acids/genetics ; Aromatic-L-Amino-Acid Decarboxylases/genetics ; Genetic Variation ; Neurotransmitter Agents/therapeutic use

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Rutledge J; Department of Genetics, Stanford University School of Medicine, Stanford University, Stanford, CA, USA. jarod@stanford.edu.; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA. jarod@stanford.edu., Lehallier B; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Zarifkar P; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Department of Clinical Epidemiology, Aarhus University, Aarhus, Denmark., Losada PM; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Wu Tsai Neurosciences Institute, Stanford University School of Medicine, Stanford, CA, USA., Shahid-Besanti M; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Western D; Department of Psychiatry, Washington University in St Louis, St Louis, MO, USA.; NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA., Gorijala P; Department of Psychiatry, Washington University in St Louis, St Louis, MO, USA.; NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA., Ryman S; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Translational Neuroscience, Mind Research Network, Albuquerque, NM, USA., Yutsis M; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Deutsch GK; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Mormino E; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Trelle A; Department of Psychology, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Wagner AD; Wu Tsai Neurosciences Institute, Stanford University School of Medicine, Stanford, CA, USA.; Department of Psychology, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Kerchner GA; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Roche Medical, Basel, Switzerland., Tian L; Department of Biomedical Data Science, Stanford University School of Humanities and Sciences, Stanford University, Stanford, CA, USA., Cruchaga C; Department of Psychiatry, Washington University in St Louis, St Louis, MO, USA.; NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA., Henderson VW; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Department of Epidemiology and Population Health, Stanford University, Stanford, CA, USA., Montine TJ; Department of Pathology, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Borghammer P; Department of Nuclear Medicine and PET, Aarhus University Hospital, Aarhus, Denmark., Wyss-Coray T; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA. twc@stanford.edu.; Wu Tsai Neurosciences Institute, Stanford University School of Medicine, Stanford, CA, USA. twc@stanford.edu.; The Knight Initiative for Brain Resilience, Stanford University, Stanford, CA, USA. twc@stanford.edu., Poston KL; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA. klposton@stanford.edu.; Wu Tsai Neurosciences Institute, Stanford University School of Medicine, Stanford, CA, USA. klposton@stanford.edu.; The Knight Initiative for Brain Resilience, Stanford University, Stanford, CA, USA. klposton@stanford.edu.; Department of Neurosurgery, Stanford University School of Medicine, Stanford University, Stanford, CA, USA. klposton@stanford.edu.

المصدر: Acta neuropathologica [Acta Neuropathol] 2024 Mar 11; Vol. 147 (1), pp. 52. Date of Electronic Publication: 2024 Mar 11.

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

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Parkinson Disease*/diagnosis , Parkinson Disease*/genetics, Humans ; Dopa Decarboxylase/genetics ; Proteomics ; Biomarkers/cerebrospinal fluid ; Plasma/metabolism ; Oxidoreductases Acting on Sulfur Group Donors ; Aromatic-L-Amino-Acid Decarboxylases

المؤلفون: Essawy Essawy A; Department of Zoology, Faculty of Science, Alexandria University, Alexandria, Egypt., Abou-ElNaga OA; Department of Zoology, Faculty of Science, Alexandria University, Alexandria, Egypt., Mehanna RA; Department of Physiology, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Badae NM; Department of Physiology, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Elsawy ES; Department of Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Soffar AA; Department of Zoology, Faculty of Science, Alexandria University, Alexandria, Egypt.

المصدر: PloS one [PLoS One] 2024 Feb 13; Vol. 19 (2), pp. e0296297. Date of Electronic Publication: 2024 Feb 13 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Parkinsonian Disorders*/therapy , Parkinsonian Disorders*/drug therapy , Parkinson Disease*/metabolism , Mesenchymal Stem Cells*/metabolism, Humans ; Rats ; Male ; Animals ; alpha-Synuclein/metabolism ; Substantia Nigra/metabolism ; Rotenone/pharmacology ; Dopa Decarboxylase/metabolism ; Administration, Intravenous ; Disease Models, Animal

المؤلفون: Lin S; School of life science and technology, Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia Autonomous Region 014010, China., Wang K; School of life science and technology, Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia Autonomous Region 014010, China., Yang B; School of life science and technology, Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia Autonomous Region 014010, China., Li B; School of life science and technology, Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia Autonomous Region 014010, China., Shen X; Library, Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia Autonomous Region 014010, China., Du Z; School of life science and technology, Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia Autonomous Region 014010, China. Electronic address: nmdzq1981@163.com.

المصدر: International journal of biological macromolecules [Int J Biol Macromol] 2022 Aug 01; Vol. 214, pp. 140-151. Date of Electronic Publication: 2022 Jun 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0003 (Electronic) Linking ISSN: 01418130 NLM ISO Abbreviation: Int J Biol Macromol Subsets: MEDLINE

مواضيع طبية MeSH: Astacoidea* , Dopa Decarboxylase*/chemistry , Dopa Decarboxylase*/genetics , Dopa Decarboxylase*/metabolism, Amino Acid Sequence ; Animals ; Anti-Bacterial Agents ; Hepatopancreas ; Immunity, Innate/genetics ; Receptors, Dopamine

المؤلفون: Tsopela V; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Korakidis E; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Lagou D; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Kalliampakou KI; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Milona RS; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Kyriakopoulou E; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Mpekoulis G; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Gemenetzi I; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Stylianaki EA; Institute for Fundamental Biomedical Research, Biomedical Sciences Research Center Alexander Fleming, 16672 Athens, Greece., Sideris CD; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Sioli A; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Kefallinos D; School of Electrical Engineering and Computer Science, National Technical University of Athens, 157 73 Athens, Greece., Sideris DC; Section of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 157 01 Athens, Greece., Aidinis V; Institute for Fundamental Biomedical Research, Biomedical Sciences Research Center Alexander Fleming, 16672 Athens, Greece., Eliopoulos AG; Department of Biology, School of Medicine, NKUA, 115 27 Athens, Greece; Center of Basic Research, Biomedical Research Foundation Academy of Athens, 115 27 Athens, Greece., Kambas K; Laboratory of Molecular Genetics, Department of Immunology, Hellenic Pasteur Institute, 115 21 Athens, Greece., Vassilacopoulou D; Section of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 157 01 Athens, Greece., Vassilaki N; Laboratory of Molecular Virology, Hellenic Pasteur Institute, 115 21 Athens, Greece. Electronic address: nikiv@pasteur.gr.

المصدر: Biochimica et biophysica acta. Molecular cell research [Biochim Biophys Acta Mol Cell Res] 2024 Jan; Vol. 1871 (1), pp. 119602. Date of Electronic Publication: 2023 Sep 29.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731731 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2596 (Electronic) Linking ISSN: 01674889 NLM ISO Abbreviation: Biochim Biophys Acta Mol Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Autophagy* , Dengue Virus*/metabolism , Hepatocytes*/pathology , Hepatocytes*/virology, Humans ; Dopa Decarboxylase/genetics ; Dopa Decarboxylase/metabolism ; Dopamine/metabolism

المؤلفون: Rizzi S; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia 42123, Italy., Spagnoli C; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia 42123, Italy., Frattini D; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia 42123, Italy., Pisani F; Child Neurology Unit, University of Parma, 43100 Parma, Italy., Fusco C; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia 42123, Italy.

المصدر: Behavioural neurology [Behav Neurol] 2022 Oct 11; Vol. 2022, pp. 2210555. Date of Electronic Publication: 2022 Oct 11 (Print Publication: 2022).

نوع المنشور: Systematic Review; Journal Article; Review

بيانات الدورية: Publisher: Hindawi Country of Publication: Netherlands NLM ID: 8914585 Publication Model: eCollection Cited Medium: Internet ISSN: 1875-8584 (Electronic) Linking ISSN: 09534180 NLM ISO Abbreviation: Behav Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Dopa Decarboxylase*/genetics , Dopa Decarboxylase*/therapeutic use , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/drug therapy, Humans ; Retrospective Studies ; Amino Acids/therapeutic use

SCR Disease Name: Aromatic amino acid decarboxylase deficiency