An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Clinical Genetics

Volumn 76, Issue 4, 2009, Pages 372-382

  Kohan, R ^a   Cismondi, I A ^a   Dodelson Kremer, R ^a   Muller, V J ^b   Guelbert, N ^a   Tapia Anzolini, V ^a   Fietz, M J ^b   Oller Ramirez A M ^a   Noher Halac, I ^a,c  

^a UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c Facultad de Ciencias Naturales e Instituto M Lillo   (Argentina)

Author keywords

CLN1; CLN2; Neurodegeneration; Neuronal ceroid lipofuscinosis; Palmitoyl protein thioesterase 1; Tripeptidyl peptidase 1

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; GLYCINE; LEUCINE; LIPOFUSCIN; PALMITOYL PROTEIN THIOESTERASE; PEPTIDASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL EXAMINATION; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HISPANIC; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

AMINOPEPTIDASES; ARGENTINA; CHILD; CHILD, PRESCHOOL; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISPANIC AMERICANS; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; SERINE PROTEASES;

EID: 70350155421     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01214.x     Document Type: Article

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