Isolated sulfite oxidase deficiency : A case report with a novel mutation and review of the literature
- Author
- TAN, Wen-Hann1 ; EICHLER, Florian S2 ; HODA, Sadaf3 ; LEE, Melissa S4 ; BARIS, Hagit1 ; HANLEY, Catherine A5 ; GRANT, P. Ellen6 ; KRISHNAMOORTHY, Kalpathy S2 ; SHIH, Vivian E3
[1] Genetics Training Program, Harvard Medical School, Boston, Massachusetts, United States
[2] Pediatric Neurology Unit, Massachusetts General Hospital, Boston, Massachusetts, United States
[3] Amino Acid Disorders Laboratory, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States
[4] Harvard Combined Medicine/ Pediatrics Program, Harvard Medical School, Boston, Massachusetts, United States
[5] Nutrition Services, Massachusetts General Hospital, Boston, Massachusetts, United States
[6] Division of Neuroradiology, Massachusetts General Hospital, Boston, Massachusetts, United States - Source
Pediatrics (Evanston). 2005, Vol 116, Num 3, pp 757-766, 10 p ; ref : 50 ref
- CODEN
- PEDIAU
- ISSN
- 0031-4005
- Scientific domain
- Genetics; Pediatrics
- Publisher
- American Academy of Pediatrics, Elk Grove Village, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- SUOX gene inborn error of metabolism molybdenum cofactor sulfite oxidase sulfite
- Keyword (fr)
- Cofacteur Déficit Enzymopathie Etude cas Gène Génétique Maladie congénitale Molybdène Mutation Métabolisme pathologie Pédiatrie Revue bibliographique Sulfite oxidase Enzyme Oxidoreductases
- Keyword (en)
- Cofactor Deficiency Enzymopathy Case study Gene Genetics Congenital disease Molybdenum Mutation Metabolic diseases Pediatrics Bibliographic review Sulfite oxidase Enzyme Oxidoreductases
- Keyword (es)
- Cofactor Déficiencia Enzimopatía Estudio caso Gen Genética Enfermedad congénita Molibdeno Mutación Metabolismo patología Pediatría Revista bibliográfica Sulfite oxidase Enzima Oxidoreductases
- Classification
- Discipline
- Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17091607
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1542/peds.2004-1897 
https://dx.doi.org/10.1542/peds.2004-1897
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