Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation

Pediatrics International

Volumn 58, Issue 8, 2016, Pages 785-788

  Harshman, Lyndsay A ^a   Ng, Bobby G ^b   Freeze, Hudson H ^b   Trapane, Pamela ^a   Dolezal, Anna ^a   Brophy, Patrick D ^a   Brumbaugh, Jane E ^a  

^a UNIVERSITY OF IOWA   (United States)

^b BURNHAM INSTITUTE   (United States)

Author keywords

edema; hypoalbuminemia; microcephaly; peritoneal dialysis

Indexed keywords

ALBUMIN; ANTIBIOTIC AGENT; ANTICONVULSIVE AGENT; FUROSEMIDE; IMMUNOGLOBULIN;

ALG1 GENE; APNEA; ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CLENCHED HAND; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B; CONGENITAL NEPHROTIC SYNDROME; CONTINUOUS VENTILATOR; CRYPTORCHISM; DETERIORATION; DISEASE ASSOCIATION; DISEASE COURSE; ELECTROSPRAY MASS SPECTROMETRY; ENTERIC FEEDING; ENTEROBACTER CLOACAE SEPSIS; FEEDING DIFFICULTY; GENE; GENE SEQUENCE; GENERALIZED EDEMA; GRAM NEGATIVE SEPSIS; HAND DISEASE; HEMATURIA; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPERTELORISM; HYPERTENSION; HYPERVOLEMIA; HYPOALBUMINEMIA; IMMUNOFLUORESCENCE; IMMUNOGLOBULIN DEFICIENCY; INFANT; KIDNEY BIOPSY; LIMB DISEASE; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN INTENSIVE CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL STATUS; PARENTERAL NUTRITION; PERITONEAL DIALYSIS; PHYSICAL EXAMINATION; PONTOCEREBELLAR ATROPHY; PRIORITY JOURNAL; PROTEINURIA; RECURRENT ASPIRATION; RECURRENT DISEASE; REFLEX DISORDER; SEIZURE; SHORTENED LIMB; STENOTROPHOMONAS MALTOPHILIA SEPSIS; STOMACH FUNDOPLICATION; WEAK GAG REFLEX;

EID: 84983341680     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12988     Document Type: Article

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