Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)

Medicine

Volumn 85, Issue 1, 2006, Pages 1-21

  Adeva, Magdalena ^a   El Youssef, Mounif ^b   Rossetti, Sandro ^a   Kamath, Patrick S ^b   Kubly, Vickie ^a   Consugar, Mark B ^a   Milliner, Dawn M ^a   King, Bernard F ^a   Torres, Vicente E ^a   Harris, Peter C ^a,b  

^a Mayo Clinic   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHOLANGITIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY; FEMALE; FOLLOW UP; GENETIC HETEROGENEITY; HEPATOSPLENOMEGALY; HUMAN; HYPERSPLENISM; KIDNEY FAILURE; KIDNEY HYPERTROPHY; KIDNEY POLYCYSTIC DISEASE; LIVER DISEASE; LIVER FIBROSIS; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN PERIOD; PHENOTYPIC VARIATION; PREVALENCE; PRIORITY JOURNAL; REVIEW; STATISTICAL SIGNIFICANCE; ARTICLE; CHRONIC KIDNEY FAILURE; GENETICS; HOSPITALIZATION; INFANT; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; PROGNOSIS; RETROSPECTIVE STUDY;

CELL SURFACE RECEPTOR; PKHD1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY FAILURE, CHRONIC; MALE; MUTATION, MISSENSE; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; PROGNOSIS; RECEPTORS, CELL SURFACE; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX;

EID: 33644957836     PISSN: 00257974     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.md.0000200165.90373.9a     Document Type: Review

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