Zobrazeno 1 - 10
of 6 134
pro vyhledávání: '"decarboxylases"'
Autor:
Sternberg Z; Jacobs School of Medicine and Biomedical Sciences, Buffalo Medical Center, Buffalo, NY, 14203, USA. zs2@buffalo.edu.
Publikováno v:
Molecular neurobiology [Mol Neurobiol] 2024 May; Vol. 61 (5), pp. 2996-3018. Date of Electronic Publication: 2023 Nov 13.
Autor:
Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Hsu PC; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Liu YH; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Wang HC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chen TI; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2024 Nov; Vol. 202, pp. 106707. Date of Electronic Publication: 2024 Oct 19.
Autor:
Zhang S; Department of Neurology & Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Chen D; University of Toronto, Toronto, Canada., Li Y; Department of Neurology, Chenzhou First People's Hospital, Chenzhou, Hunan, China., Qin S; Department of Neurology, The Hospital Affiliated to Shanxi University of Chinese Medicine, Taiyuan, Shanxi, China., Wu Y; Department of Neurology & Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: wyw11380@rjh.com.cn.
Publikováno v:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Oct; Vol. 127, pp. 107093. Date of Electronic Publication: 2024 Aug 13.
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Autor:
Bisello G; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Franchini R; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Carmona CAC; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12791. Date of Electronic Publication: 2024 Aug 21.
Autor:
Yoldaş Çelik M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Canda E; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yazıcı H; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Erdem F; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yüksel Yanbolu A; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Aykut A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Durmaz A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Anık A; Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, Aydın, Turkey, Kalkan Uçar S; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Çoker M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Sep 05; Vol. 16 (3), pp. 361-366. Date of Electronic Publication: 2023 Jan 04.
Autor:
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.
Publikováno v:
Biochemistry [Biochemistry] 2024 Aug 06; Vol. 63 (15), pp. 1980-1990. Date of Electronic Publication: 2024 Jul 15.
Autor:
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.
Publikováno v:
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.
Autor:
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.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 463-475. Date of Electronic Publication: 2023 Jul 17.
Autor:
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.
Publikováno v:
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Jun 25; Vol. 714, pp. 149940. Date of Electronic Publication: 2024 Apr 16.
Autor:
Müller T; Springer Medizin, Neu-Isenburg, Germany.
Publikováno v:
MMW Fortschritte der Medizin [MMW Fortschr Med] 2024 Feb; Vol. 166 (Suppl 1), pp. 21-22.