المؤلفون: Abukhaled M; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, (KFSH-RC), Riyadh, Saudi Arabia. abukhaled_md@hotmail.com., Al Muqbil M; College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Alghamdi MA; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Hundallah K; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Suleiman J; Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.; College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; American Center for Psychiatry and Neurology, Abu Dhabi, United Arab Emirates., Ben-Omran T; Sidra Medicine and Research Center, Doha, Qatar.; Hamad Medical Corporation, Doha, Qatar., Alfadhel M; Department of Genetics and Precision Medicine, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Medical Genomic Research Department, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Almannai M; Department of Genetics and Precision Medicine, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Medical Genomic Research Department, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Alsaleh R; Sidra Medicine and Research Center, Doha, Qatar., Tabarki B; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

المصدر: European journal of pediatrics [Eur J Pediatr] 2023 Jun; Vol. 182 (6), pp. 2535-2545. Date of Electronic Publication: 2023 Mar 16.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/therapy , Aromatic-L-Amino-Acid Decarboxylases*/genetics , Aromatic-L-Amino-Acid Decarboxylases*/therapeutic use, Humans ; Dopamine Agonists/therapeutic use ; Mutation

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Alfadhel M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia. dralfadhelm@gmail.com., Nashabat M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Saleh M; Medical Genetics Section, King Fahad Medical City, Children's Hospital, Riyadh, Kingdom of Saudi Arabia., Elamin M; Medical Genetics Section, King Fahad Medical City, Children's Hospital, Riyadh, Kingdom of Saudi Arabia., Alfares A; Department of Pediatrics, College of Medicine, Qassim University, Buraidah, Kingdom of Saudi Arabia., Al Othaim A; Department of Pathology, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Kingdom of Saudi Arabia., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Ahmed H; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Ababneh F; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Al Mutairi F; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Eyaid W; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Alswaid A; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Alohali L; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences (KSAUHS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Faqeih E; Medical Genetics Section, King Fahad Medical City, Children's Hospital, Riyadh, Kingdom of Saudi Arabia., Almannai M; Medical Genetics Section, King Fahad Medical City, Children's Hospital, Riyadh, Kingdom of Saudi Arabia., Aljeraisy M; King Abdullah International Medical Research Centre, College of Pharmacy, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Kingdom of Saudi Arabia., Albdah B; Department Biostatistics and Bioinformatics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs, Riyadh, Kingdom of Saudi Arabia., Hussein MA; Department Biostatistics and Bioinformatics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs, Riyadh, Kingdom of Saudi Arabia., Rahbeeni Z; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia., Alasmari A; Medical Genetics Section, King Fahad Medical City, Children's Hospital, Riyadh, Kingdom of Saudi Arabia.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 11; Vol. 16 (1), pp. 422. Date of Electronic Publication: 2021 Oct 11.

نوع المنشور: Journal Article; Multicenter Study; Randomized Controlled Trial; 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*/drug therapy , Propionic Acidemia*/drug therapy, Glutamates ; Humans ; Methylmalonic Acid ; Prospective Studies

SCR Disease Name: Methylmalonic acidemia