Homozygous variegate porphyria presenting with developmental and language delay in childhood

Clinical and Experimental Dermatology

Volumn 38, Issue 7, 2013, Pages 737-740

  Pinder, V A E ^a   Holden, S T ^a   Deshpande, C ^a   Siddiqui, A ^a   Mellerio, J E ^a   Wraige, E ^a   Powell, A M ^a  

^a EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN; PORPHYRIN; PROTOPORPHYRINOGEN OXIDASE; SUNSCREEN;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; ATAXIA; ATAXIC GAIT; BLISTER; BLOOD LEVEL; BRACHYDACTYLY; CASE REPORT; CHILD; CHILDHOOD DISEASE; CONSTIPATION; COUNSELING; DIFFERENTIAL DIAGNOSIS; EPILEPSY; EROSION; FECES LEVEL; FOLLOW UP; GRAY MATTER; HETEROZYGOTE; HOMOZYGOUS VARIEGATE PORPHYRIA; HUMAN; HYPOMYELINATING LEUCOENCEPHALOPATHY; LANGUAGE DELAY; LANGUAGE DEVELOPMENT; LEUKOENCEPHALOPATHY; MEDICAL HISTORY; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MYELINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPEN READING FRAME; PAPULE; PHOTOSENSITIVITY; PORPHYRIA VARIEGATA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; REPEAT PROCEDURE; RISK REDUCTION; SACCADIC EYE MOVEMENT; SCAR FORMATION; SHORT STATURE; SKIN FRAGILITY; TREMOR; URINE LEVEL; WHITE MATTER;

ATAXIA; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; NYSTAGMUS, CONGENITAL; PHOTOSENSITIVITY DISORDERS; PORPHYRIA, VARIEGATE; PROTOPORPHYRINOGEN OXIDASE;

EID: 84884887005     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12071     Document Type: Article

References (10)

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