Phenotypic and genetic characterization of a cohort of pediatric wilson disease patients

BMC Pediatrics

Volumn 11, Issue , 2011, Pages

  Abdel Ghaffar, Tawhida Y ^a,b   Elsayed, Solaf M ^a,b,c   Elnaghy, Suzan ^a   Shadeed, Ahmed ^b   Elsobky, Ezzat S ^b,c   Schmidt, Hartmut ^d  

^a Yassin Abdelghaffar Charity Center for Liver Disease and Research   (Egypt)

^b Ain Shams University   (Egypt)

^c Medical Genetics Center   (Egypt)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Hepatic; Mutations; Neurological; Pediatric; Wilson disease

Indexed keywords

CERULOPLASMIN; PENICILLAMINE; WILSON DISEASE PROTEIN; ZINC SULFATE; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN;

ACUTE LIVER FAILURE; ADOLESCENT; ADULT; ALBUMINURIA; ARTICLE; CHILD; CONSANGUINITY; CONTROLLED STUDY; DOSE RESPONSE; DRUG DOSE REDUCTION; DRUG HYPERSENSITIVITY; DRUG WITHDRAWAL; EPIGASTRIC PAIN; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HAIR LOSS; HEMATURIA; HOMOZYGOSITY; HUMAN; LEUKOPENIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MONOTHERAPY; MORBIDITY; NEUROLOGIC DISEASE; NONSENSE MUTATION; PATIENT COMPLIANCE; PHENOTYPE; POPULATION; PRESCHOOL CHILD; PRURITUS; RETROSPECTIVE STUDY; SCHOOL CHILD; THROMBOCYTOPENIA; TREATMENT OUTCOME; VOMITING; WILSON DISEASE; CORNEA DISEASE; EGYPT; GENETIC ASSOCIATION; GENETICS; HOSPITALIZATION; LIVER DISEASE; ONSET AGE; PATHOPHYSIOLOGY;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGE OF ONSET; CATION TRANSPORT PROTEINS; CHILD; CORNEAL DISEASES; EGYPT; FEMALE; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER DISEASES; MALE; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX;

EID: 79958825532     PISSN: None     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/1471-2431-11-56     Document Type: Article

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