Recessive hereditary methaemoglobinaemia, type II: Delineation of the clinical spectrum

Brain

Volumn 131, Issue 3, 2008, Pages 760-771

  Ewenczyk, C ^a   Leroux, A ^b   Roubergue, A ^c   Laugel, V ^d   Afenjar, A ^c   Saudubray, J M ^e   Beauvais, P ^c   De Villemeur, T Billette ^c   Vidailhet, M ^a   Roze, E ^a,f,g  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b INSTITUT COCHIN   (France)

^c SERVICE DE DERMATOLOGIE   (France)

^d HÔPITAL DE HAUTEPIERRE   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f Groupe Enzymologie Moléculaire et Fonctionnelle   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cerebral palsy; Cyanosis; Cytochrome b5 reductase; Dystonia; Methaemoglobinaemia

Indexed keywords

CYTOCHROME B5 REDUCTASE;

ARTICLE; BRAIN DISEASE; CELL ACTIVITY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYANOSIS; DYSTONIA; ERYTHROCYTE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; LEUKOCYTE; MALE; METHEMOGLOBINEMIA; MICROCEPHALY; MOTOR DYSFUNCTION; OUTCOME ASSESSMENT; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; TYPE 2 RECESSIVE HEREDITARY METHAEMOGLOBINAEMIA;

EID: 39749182220     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm337     Document Type: Article

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