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Neonatal Diagnosis and Treatment of Menkes Disease

Author
KALER, Stephen G1 ; HOLMES, Courtney S2 ; GOLDSTEIN, David S2 ; JINGRONG TANG1 ; GODWIN, Sarah C1 ; DONSANTE, Anthony1 ; LIEW, Clarissa J3 ; SATO, Susumu3 ; PATRONAS, Nicholas4
[1] Unit on Pediatric Genetics, Program in Molecular Medicine, National Institute of Child Health and Human Development, United States
[2] Clinical Neurocardiology Section, Imaging Sciences Program, Mark O.Hatfield Clinical Center -all at the National Institutes of Health, Bethesda, MD, United States
[3] Electroencephalography Section, Imaging Sciences Program, Mark O.Hatfield Clinical Center -all at the National Institutes of Health, Bethesda, MD, United States
[4] National Institute of Neurological Disorders and Stroke, Imaging Sciences Program, Mark O.Hatfield Clinical Center -all at the National Institutes of Health, Bethesda, MD, United States
Source

The New England journal of medicine. 2008, Vol 358, Num 6, pp 605-614, 10 p ; ref : 30 ref

CODEN
NEJMAG
ISSN
0028-4793
Scientific domain
General medicine general surgery
Publisher
Massachusetts Medical Society, Boston, MA
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
Cuivre Diagnostic Elément minéral Médecine Nouveau né Néonatal Syndrome de Menkes Traitement Enzymopathie Homme Maladie héréditaire Maladie métabolique Pathologie de l'encéphale Pathologie de la peau Pathologie du système nerveux central Pathologie du système nerveux
Keyword (en)
Copper Diagnosis Inorganic element Medicine Newborn Neonatal Menkes syndrome Treatment Enzymopathy Human Genetic disease Metabolic diseases Cerebral disorder Skin disease Central nervous system disease Nervous system diseases
Keyword (es)
Cobre Diagnóstico Elemento inorgánico Medicina Recién nacido Neonatal Menkes síndrome Tratamiento Enzimopatía Hombre Enfermedad hereditaria Metabolismo patología Encéfalo patología Piel patología Sistema nervosio central patología Sistema nervioso patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B01 General aspects

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22E Other metabolic disorders / 002B22E03 Metals (hemochromatosis...)

Discipline
Generalities in medical sciences Metabolic diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20057789

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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