Congenital insensitivity to pain with anhidrosis (NTRK1 mutation) and early onset renal disease: Clinical report on three sibs with a 25-year follow-up in one of them

Neuropediatrics

Volumn 36, Issue 4, 2005, Pages 270-273

  Barone, R ^a   Lempereur, L ^a   Anastasi, M ^a   Parano, E ^a,b   Pavone, Piero ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

Author keywords

CIPA; Long term follow up; NGF receptor; NTRK1 mutation; Renal disease

Indexed keywords

IMMUNOGLOBULIN G; IMMUNOGLOBULIN KAPPA CHAIN; IMMUNOGLOBULIN LAMBDA CHAIN; NERVE GROWTH FACTOR; NEUROTROPHIC TYROSINE RECEPTOR KINASE 1; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ANHIDROSIS; ANTICOAGULATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL ANALGESIA; CREATININE BLOOD LEVEL; FEMALE; FIBROSING ALVEOLITIS; FOCAL GLOMERULOSCLEROSIS; FOLLOW UP; GENE MUTATION; GENETIC CODE; HEMATURIA; HUMAN; KIDNEY BIOPSY; KIDNEY DISEASE; MALE; MENTAL DEFICIENCY; MICROSCOPY; PAIN THRESHOLD; PRIORITY JOURNAL; PROTEINURIA; UREA BLOOD LEVEL;

ADOLESCENT; ADULT; ANTIGENS, CD5; B-LYMPHOCYTES; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPOHIDROSIS; IMMUNOGLOBULIN G; LONGITUDINAL STUDIES; MALE; MUTATION; PAIN INSENSITIVITY, CONGENITAL; RECEPTOR, TRKA; SIBLINGS;

EID: 24744455225     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-872808     Document Type: Article

References (15)

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