Congenital disorder of glycosylation-X : clinicopathologic study of an autopsy case with distinct neuropathologic features
- Author
- AGARWAL, Beamon1 ; AHMED, Atif2 ; RUSHING, Elisabeth J3 ; BLOOM, Miriam4 ; KADOM, Nadja5 ; VEZINA, Gilbert5 ; KRASNEWICH, Donna6 ; SANTI, Mariarita2
[1] Department of Pathology, Howard University School of Medicine, Washington, DC 20059, United States
[2] Division of Pathology, Children's Hospital National Medical Center, Washington, DC 20010, United States
[3] Department of Neuropathology and Ophthalmic Pathology, Armed Forces Institute of Pathology, Washington, DC 20306, United States
[4] Complex Referral and Radiology, Children's Hospital National Medical Center, Washington, DC 20010, United States
[5] Division of Radiology, Complex Referral and Radiology, Washington, DC 20010, United States
[6] National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States - Source
Human pathology. 2007, Vol 38, Num 11, pp 1714-1719, 6 p ; ref : 17 ref
- CODEN
- HPCQA4
- ISSN
- 0046-8177
- Scientific domain
- Medical oncology; Medical laboratory techniques; General medicine general surgery
- Publisher
- Elsevier, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Autopsy Brain Cirrhosis Glycosylation Transferrin
- Keyword (fr)
- Anatomopathologie Autopsie Cirrhose Encéphale Etude cas Glycoprotéine Glycosylation Hypoglycosylation syndrome Symptomatologie Transferrine Appareil digestif pathologie Enzymopathie Foie pathologie Maladie héréditaire Métabolisme pathologie Système nerveux central Système nerveux pathologie
- Keyword (en)
- Anatomic pathology Autopsy Cirrhosis Encephalon Case study Glycoprotein Glycosylation Carbohydrate deficient glycoprotein syndrome Symptomatology Transferrin Digestive diseases Enzymopathy Hepatic disease Genetic disease Metabolic diseases Central nervous system Nervous system diseases
- Keyword (es)
- Anatomía patológica Autopsia Cirrosis Encéfalo Estudio caso Glicoproteína Glicosilación Carbohydrate deficient glycoprotein syndrome Sintomatología Transferrina Aparato digestivo patología Enzimopatía Hígado patología Enfermedad hereditaria Metabolismo patología Sistema nervioso central Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13C Liver. Biliary tract. Portal circulation. Exocrine pancreas / 002B13C03 Other diseases. Semiology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B24 Investigative techniques, diagnostic techniques (general aspects) / 002B24O Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
- Discipline
- Gastroenterology. Liver. Pancreas. Abdomen Scanning and diagnostic techniques
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19210968
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
10.1016/j.humpath.2007.05.028 
https://dx.doi.org/10.1016/j.humpath.2007.05.028
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