المؤلفون: Sternberg Z; Jacobs School of Medicine and Biomedical Sciences, Buffalo Medical Center, Buffalo, NY, 14203, USA. zs2@buffalo.edu.

المصدر: Molecular neurobiology [Mol Neurobiol] 2024 May; Vol. 61 (5), pp. 2996-3018. Date of Electronic Publication: 2023 Nov 13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Aromatic-L-Amino-Acid Decarboxylases*/*deficiency, Aromatic-L-Amino-Acid Decarboxylases*/metabolism , Aromatic-L-Amino-Acid Decarboxylases*/genetics , Amino Acid Metabolism, Inborn Errors*/therapy , Amino Acid Metabolism, Inborn Errors*/genetics , Neurodegenerative Diseases*/therapy, Humans ; Animals

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Gou Y; Department of Physics, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong, China., Li T; Department of Physics, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong, China., Wang Y; Department of Physics, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong, China.

المصدر: Biochemistry [Biochemistry] 2024 Aug 06; Vol. 63 (15), pp. 1980-1990. Date of Electronic Publication: 2024 Jul 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 0370623 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-4995 (Electronic) Linking ISSN: 00062960 NLM ISO Abbreviation: Biochemistry Subsets: MEDLINE

مواضيع طبية MeSH: Aromatic-L-Amino-Acid Decarboxylases*/metabolism , Aromatic-L-Amino-Acid Decarboxylases*/genetics , Aromatic-L-Amino-Acid Decarboxylases*/chemistry , Catalytic Domain* , Molecular Dynamics Simulation* , Oxygen*/metabolism , Oxygen*/chemistry, Papaver/enzymology ; Papaver/genetics ; Papaver/metabolism ; Plant Proteins/metabolism ; Plant Proteins/chemistry ; Plant Proteins/genetics ; Tyrosine/metabolism ; Tyrosine/chemistry ; Tyrosine/genetics

المؤلفون: Baribeau DA; Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada; The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address: danielle.baribeau@mail.utoronto.ca., Vorstman JAS; The Hospital for Sick Children, Toronto, Ontario, Canada., Pearson TS; Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio.

المصدر: Journal of the American Academy of Child and Adolescent Psychiatry [J Am Acad Child Adolesc Psychiatry] 2024 Jun; Vol. 63 (6), pp. 571-573. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Case Reports; Journal Article; Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8704565 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-5418 (Electronic) Linking ISSN: 08908567 NLM ISO Abbreviation: J Am Acad Child Adolesc Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Selective Serotonin Reuptake Inhibitors*/therapeutic use , Aromatic-L-Amino-Acid Decarboxylases*/deficiency , Aromatic-L-Amino-Acid Decarboxylases*/genetics , Genetic Therapy*/methods, Humans ; Female ; Child ; Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/therapy

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Roubertie A; CHU Montpellier, Département de Neuropédiatrie, INM, Univ Montpellier, INSERM U 1298, Montpellier, France., Opladen T; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Germany., Brennenstuhl H; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Germany.; Institute Human Genetics, University Children's Hospital Heidelberg, Germany., Kuseyri Hübschmann O; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Germany., Flint L; AADC Research Trust, Caterham, UK., Willemsen MA; Department of Pediatric Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Leuzzi V; Department of Human Neuroscience-Unit of Child Neurology and Psychiatry, University of Rome La Sapienza., Cazorla AG; Neurometabolism Unit, Department of Neurology, CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain., Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, London, UK., François-Heude MC; CHU Montpellier, Département de Neuropédiatrie, INM, Univ Montpellier, INSERM U 1298, Montpellier, France., Hwu P; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Zeev BB; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Kiening K; Division of Stereotactic Neurosurgery, University Hospital Heidelberg, Germany., Roujeau T; CHU Montpellier, Département de Neurochirurgie, Montpellier, France., Pons R; First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, Athens, Greece., Pearson TS; Division of Neurology, Nationwide Children's Hospital, Columbus, Ohio, USA.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 463-475. Date of Electronic Publication: 2023 Jul 17.

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

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Therapy*/methods , Aromatic-L-Amino-Acid Decarboxylases*/deficiency , Aromatic-L-Amino-Acid Decarboxylases*/genetics , Amino Acid Metabolism, Inborn Errors*/therapy , Amino Acid Metabolism, Inborn Errors*/genetics, Humans ; Follow-Up Studies ; Genetic Vectors

المؤلفون: Uenishi E; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan; Uenishi Diabetes and Thyroid Clinic, Komaki, 485-0044, Japan., Seino Y; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan; Department of Endocrinology, Diabetes and Metabolism, Fujita Health University School of Medicine, Toyoake, 470-1192, Japan., Nakashima A; Department of Physiology I, Fujita Health University School of Medicine, Toyoake, 470-1192, Japan., Kato K; Functional Medical Imaging, Biomedical Imaging Sciences, Division of Advanced Information Health Sciences, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Nagoya, 461-8673, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8555, Japan., Nagasaki H; Department of Physiology I, Fujita Health University School of Medicine, Toyoake, 470-1192, Japan., Ishikawa K; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan., Izumoto T; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan; Department of Oral and Maxillofacial Surgery/ Protective Care for Masticatory Disorders, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan., Yamamoto M; Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, 650-0017, Japan., Takahashi Y; Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, 650-0017, Japan; Department of Diabetes and Endocrinology, Nara Medical University, Nara, 634-8522, Japan., Sugimura Y; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan; Department of Endocrinology, Diabetes and Metabolism, Fujita Health University School of Medicine, Toyoake, 470-1192, Japan., Oiso Y; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan., Tsunekawa S; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan; Division of Diabetes, Department of Internal Medicine, Aichi Medical University, Nagakute, 480-1195, Japan. Electronic address: tsune87@aichi-med-u.ac.jp.

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Jun 25; Vol. 714, pp. 149940. Date of Electronic Publication: 2024 Apr 16.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Aromatic-L-Amino-Acid Decarboxylases*/deficiency , Autoimmunity* , Hypotension, Orthostatic*/etiology , Hypotension, Orthostatic*/physiopathology, Female ; Humans ; Middle Aged ; Autoantibodies/blood ; Autoantibodies/immunology ; Catecholamines ; Dopamine/metabolism ; Serotonin/metabolism

عنوان ترانسليتريتد: Gentherapie nimmt schwerem AADC-Mangel den Schrecken.

المؤلفون: Müller T; Springer Medizin, Neu-Isenburg, Germany.

المصدر: MMW Fortschritte der Medizin [MMW Fortschr Med] 2024 Feb; Vol. 166 (Suppl 1), pp. 21-22.

نوع المنشور: News

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 100893959 Publication Model: Print Cited Medium: Internet ISSN: 1613-3560 (Electronic) Linking ISSN: 14383276 NLM ISO Abbreviation: MMW Fortschr Med Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors* , Aromatic-L-Amino-Acid Decarboxylases*/deficiency , Genetic Therapy*, Humans

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Tripathi RK; Department of Pharmacy Practice, ISF College of Pharmacy, Moga, 142001, Punjab, India., Goyal L; Neuropharmacology Division, Department of Pharmacology, ISF College of Pharmacy, Moga, 142001, Punjab, India., Singh S; Neuropharmacology Division, Department of Pharmacology, ISF College of Pharmacy, Moga, 142001, Punjab, India.

المصدر: Current gene therapy [Curr Gene Ther] 2024; Vol. 24 (4), pp. 278-291.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Bentham Science Publishers Country of Publication: United Arab Emirates NLM ID: 101125446 Publication Model: Print Cited Medium: Internet ISSN: 1875-5631 (Electronic) Linking ISSN: 15665232 NLM ISO Abbreviation: Curr Gene Ther Subsets: MEDLINE

مواضيع طبية MeSH: Parkinson Disease*/drug therapy , Parkinson Disease*/genetics , Parkinson Disease*/metabolism , Parkinson Disease*/therapy , Aromatic-L-Amino-Acid Decarboxylases*/genetics , Genetic Therapy*/methods , Glial Cell Line-Derived Neurotrophic Factor*/genetics , Glial Cell Line-Derived Neurotrophic Factor*/therapeutic use , Putamen*/metabolism, Humans ; Animals ; Levodopa/therapeutic use ; Dopamine/metabolism

المؤلفون: Irmler S; Agroscope, Bern, Switzerland. Electronic address: stefan.irmler@agroscope.admin.ch., Bavan T; Agroscope, Bern, Switzerland., Binz E; Agroscope, Bern, Switzerland., Portmann R; Agroscope, Bern, Switzerland.

المصدر: Food microbiology [Food Microbiol] 2023 Dec; Vol. 116, pp. 104343. Date of Electronic Publication: 2023 Aug 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 8601127 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9998 (Electronic) Linking ISSN: 07400020 NLM ISO Abbreviation: Food Microbiol Subsets: MEDLINE

مواضيع طبية MeSH: Aromatic-L-Amino-Acid Decarboxylases*/genetics , Escherichia coli*/genetics, Amino Acids ; Tryptamines ; Tyrosine ; Lactobacillus ; Levodopa ; Phenylalanine

المؤلفون: Kumagai S; Department of Neurosurgery, Jichi Medical University, Tochigi, Japan., Nakajima T; Department of Neurosurgery, Jichi Medical University, Tochigi, Japan., Muramatsu SI; Division of Neurological Gene Therapy, Jichi Medical University, Tochigi, Japan.

المصدر: Expert opinion on biological therapy [Expert Opin Biol Ther] 2024 Aug; Vol. 24 (8), pp. 773-785. Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101125414 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-7682 (Electronic) Linking ISSN: 14712598 NLM ISO Abbreviation: Expert Opin Biol Ther Subsets: MEDLINE

مواضيع طبية MeSH: Dependovirus*/genetics , Genetic Therapy*/methods , Genetic Vectors*/genetics, Humans ; Animals ; Parkinson Disease/therapy ; Parkinson Disease/genetics ; Nervous System Diseases/genetics ; Nervous System Diseases/therapy ; Gene Transfer Techniques ; Aromatic-L-Amino-Acid Decarboxylases/genetics ; Aromatic-L-Amino-Acid Decarboxylases/deficiency ; Amino Acid Metabolism, Inborn Errors

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Bisello G; Department of Neuroscience, Biomedicine and Movement Sciences, Section of Biological Chemistry, Verona, Italy., Ribeiro RP; Department of Biotechnology, University of Verona, Verona, Italy., Perduca M; Department of Biotechnology, University of Verona, Verona, Italy., Belviso BD; National Research Council (CNR), Institute of Crystallography, CNR, Bari, Italy., Polverino De' Laureto P; Department of Pharmaceutical and Pharmacological Sciences, University of Padova, Padova, Italy., Giorgetti A; Department of Biotechnology, University of Verona, Verona, Italy., Caliandro R; National Research Council (CNR), Institute of Crystallography, CNR, Bari, Italy., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, Section of Biological Chemistry, Verona, Italy.

المصدر: Protein science : a publication of the Protein Society [Protein Sci] 2023 Aug; Vol. 32 (8), pp. e4732.

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

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9211750 Publication Model: Print Cited Medium: Internet ISSN: 1469-896X (Electronic) Linking ISSN: 09618368 NLM ISO Abbreviation: Protein Sci Subsets: MEDLINE

مواضيع طبية MeSH: Aromatic-L-Amino-Acid Decarboxylases*/genetics , Aromatic-L-Amino-Acid Decarboxylases*/metabolism , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/pathology, Humans ; Child ; Scattering, Small Angle ; X-Ray Diffraction ; Amino Acids

SCR Disease Name: Aromatic amino acid decarboxylase deficiency