المؤلفون: Al Dhahouri N; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Langhans CD; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Al Hammadi Z; Department of Genetics, Latifa Hospital, Dubai, United Arab Emirates., Okun JG; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Al-Jasmi F; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Al-Dirbashi OY; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 5B2, Canada; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada. Electronic address: dirbashios@uaeu.ac.ae.

المصدر: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2018 Dec; Vol. 487, pp. 41-45. Date of Electronic Publication: 2018 Sep 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Urinalysis*, Amino Acid Metabolism, Inborn Errors/*diagnosis , Citrates/*urine , Propionic Acidemia/*diagnosis, Amino Acid Metabolism, Inborn Errors/urine ; Chromatography, Liquid ; Humans ; Propionic Acidemia/urine ; Tandem Mass Spectrometry

SCR Disease Name: Methylmalonic acidemia

المؤلفون: Al-Dirbashi OY; 1 Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; 2 Department of Pediatrics, University of Ottawa, Ottawa, Canada.; 3 Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., McIntosh N; 1 Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada., Chakraborty P; 1 Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; 2 Department of Pediatrics, University of Ottawa, Ottawa, Canada.; 3 Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

المصدر: Journal of medical screening [J Med Screen] 2017 Jun; Vol. 24 (2), pp. 58-61. Date of Electronic Publication: 2016 May 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Country of Publication: England NLM ID: 9433359 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1475-5793 (Electronic) Linking ISSN: 09691413 NLM ISO Abbreviation: J Med Screen Subsets: MEDLINE

مواضيع طبية MeSH: Dried Blood Spot Testing*, Amino Acid Metabolism, Inborn Errors/*blood , Citrates/*blood , Neonatal Screening/*methods, Acetylcarnitine/blood ; Algorithms ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Biomarkers/blood ; Carnitine/analogs & derivatives ; Carnitine/blood ; Chromatography, Liquid ; False Positive Reactions ; Humans ; Infant, Newborn ; Methylmalonic Acid/blood ; Predictive Value of Tests ; Reference Values ; Referral and Consultation ; Reproducibility of Results ; Tandem Mass Spectrometry

SCR Disease Name: Methylmalonic acidemia

المؤلفون: Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT

مؤلفون مشاركون: FORGE Canada Consortium

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jul 09; Vol. 8, pp. 98. Date of Electronic Publication: 2013 Jul 09.

نوع المنشور: Journal Article; 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/*enzymology , Methylmalonate-Semialdehyde Dehydrogenase (Acylating)/*deficiency , Methylmalonate-Semialdehyde Dehydrogenase (Acylating)/*genetics , Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis, Amino Acid Metabolism, Inborn Errors/genetics ; Child, Preschool ; Exome/genetics ; Female ; Humans ; Methylmalonic Acid/metabolism ; Mutation ; Purine-Pyrimidine Metabolism, Inborn Errors/enzymology ; Purine-Pyrimidine Metabolism, Inborn Errors/genetics

SCR Disease Name: Methylmalonate Semialdehyde Dehydrogenase Deficiency; Methylmalonic acidemia

المؤلفون: Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia., Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK

المصدر: Journal of the neurological sciences [J Neurol Sci] 2008 Jan 15; Vol. 264 (1-2), pp. 187-94. Date of Electronic Publication: 2007 Sep 07.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0022-510X (Print) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors/*genetics , Amino Acid Metabolism, Inborn Errors/*physiopathology , Amino Acid Transport Systems, Basic/*genetics , Brain Diseases, Metabolic, Inborn/*genetics , Brain Diseases, Metabolic, Inborn/*physiopathology , Genetic Predisposition to Disease/*genetics, Adolescent ; Amino Acid Metabolism, Inborn Errors/metabolism ; Brain/metabolism ; Brain/pathology ; Brain/physiopathology ; Brain Diseases, Metabolic, Inborn/metabolism ; Child ; Child, Preschool ; Citrulline/analogs & derivatives ; Citrulline/metabolism ; DNA Mutational Analysis ; Female ; Food, Formulated ; Genetic Markers/genetics ; Genetic Testing ; Genotype ; Humans ; Hyperammonemia/genetics ; Hyperammonemia/metabolism ; Hyperammonemia/physiopathology ; Magnetic Resonance Imaging ; Male ; Mitochondrial Membrane Transport Proteins ; Mutation/genetics ; Ornithine/metabolism ; Pedigree ; Saudi Arabia ; Sodium Benzoate/therapeutic use ; Stroke/genetics ; Stroke/pathology ; Stroke/physiopathology