Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

Pediatric Nephrology

Volumn 21, Issue 2, 2006, Pages 182-189

  Laakkonen, Hanne ^a   Lönnqvist, Tuula ^a   Uusimaa, Johanna ^b   Qvist, Erik ^a   Valanne, Leena ^a   Nuutinen, Matti ^b   Ala Houhala, Marja ^c   Majamaa, Kari ^b   Jalanko, Hannu ^a   Holmberg, Christer ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF OULU   (Finland)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Congenital nephrotic syndrome; Mitochondrial disease; Muscular dystonia and athetosis; NPHS1and neurological symptoms

Indexed keywords

MITOCHONDRIAL DNA; NEPHRIN;

ARTICLE; ATHETOSIS; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CEREBRAL PALSY; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; DEATH; DIAPHRAGM; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSKINESIA; DYSTONIA; FEMALE; FINLAND; GENE MUTATION; GLOBUS PALLIDUS; HEARING IMPAIRMENT; HUMAN; IMAGE ANALYSIS; INFECTION; KIDNEY DISEASE; KIDNEY TRANSPLANTATION; MALE; MENTAL HEALTH; MOTOR DYSFUNCTION; NEPHROTIC SYNDROME; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PODOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RENAL REPLACEMENT THERAPY; SIGNAL DETECTION; SOCIAL STATUS; SYMPTOMATOLOGY;

ATHETOSIS; DNA, MITOCHONDRIAL; DYSTONIA; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEPHROTIC SYNDROME; RETROSPECTIVE STUDIES;

EID: 30944438751     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-005-2116-1     Document Type: Article

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