Cystic renal dysplasia as a leading sign of inherited metabolic disease

Pediatric Nephrology

Volumn 22, Issue 12, 2007, Pages 2119-2124

  Distelmaier, Felix ^a   Vogel, Markus ^a   Spiekerkötter, Ute ^a   Gempel, Klaus ^b   Klee, Dirk ^a   Braunstein, Stefan ^a   Groneck, Heinz Peter ^c   Mayatepek, Ertan ^a   Wendel, Udo ^a   Schwahn, Bernd ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c Children's Hospital Leverkusen   (Germany)

Author keywords

Carnitine palmitoyltransferase type II deficiency; Cystic renal dysplasia; Emergency therapy; Glutaric acidemia type II; Metabolic crisis

Indexed keywords

ACYLCARNITINE; AMMONIA; ARGININE; BENZOIC ACID; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CREATINE KINASE; CREATININE; GLUCOSE; GLUTARIC ACID; INSULIN; LACTATE DEHYDROGENASE; LACTIC ACID; LIVER ENZYME; URIC ACID;

AMMONIA BLOOD LEVEL; ARTICLE; ARTIFICIAL VENTILATION; BLOOD ANALYSIS; CARNITINE PALMITOYLTRANSFERASE TYPE II DEFICIENCY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DEATH; ECHOGRAPHY; EMERGENCY TREATMENT; ENZYME BLOOD LEVEL; FEMALE; GENE MUTATION; GLUTARIC ACIDEMIA TYPE II; HUMAN; HYPERKALEMIA; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; INFANT; INTRAUTERINE GROWTH RETARDATION; KIDNEY DYSPLASIA; KIDNEY FAILURE; MALE; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING; OLIGOHYDRAMNIOS; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY DISTRESS;

ABNORMALITIES, MULTIPLE; ACIDOSIS; CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY DISEASES, CYSTIC; MALE; METABOLISM, INBORN ERRORS;

EID: 36048943904     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-007-0536-9     Document Type: Article

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