MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome

Journal of Pediatric Gastroenterology and Nutrition

Volumn 54, Issue 4, 2012, Pages 491-498

  Golachowska, Magdalena R ^a   Van Dael, Carin M L ^d   Keuning, Hilda ^a   Karrenbeld, Arend ^a   Hoekstra, Dick ^a   Gijsbers, Carolien F M ^b   Benninga, Marc A ^c   Rings, Edmond H H M ^a   Van IJzendoorn, Sven C D ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b JULIANA CHILDREN S HOSPITAL   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d VIECURI MEDICAL CENTER   (Netherlands)

Author keywords

apical plasma membrane; apical recycling endosome; brush border; cell polarity; microvillus inclusion disease; recycling endosome; renal Fanconi syndrome

Indexed keywords

ALKALINE PHOSPHATASE; CREATININE; PARATHYROID HORMONE;

ALKALINE PHOSPHATASE BLOOD LEVEL; AMINOACIDURIA; ARTICLE; BETA 2 MICROGLOBULIN URINE LEVEL; CASE REPORT; CELL MEMBRANE; CODON; COLON BIOPSY; CREATININE BLOOD LEVEL; DEHYDRATION; DIARRHEA; DISEASE COURSE; DUAL ENERGY X RAY ABSORPTIOMETRY; DUODENUM BIOPSY; ENDOSOME; ENTERIC FEEDING; ENTEROPATHY; EXON; FANCONI RENOTUBULAR SYNDROME; GENE MUTATION; GENE SEQUENCE; GLOMERULUS FILTRATION RATE; GROWTH DISORDER; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCALCIURIA; IMMUNOHISTOCHEMISTRY; INTESTINE BRUSH BORDER; INTESTINE CELL; INTRON; JAUNDICE; JEJUNUM BIOPSY; KIDNEY BIOPSY; KIDNEY PARENCHYMA; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE DISORDER; MALE; MICROVILLUS INCLUSION DISEASE; OUTCOME ASSESSMENT; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PROTEINURIA; RICKETS; SODIUM EXCRETION; TOTAL PARENTERAL NUTRITION; TRANSMISSION ELECTRON MICROSCOPY; WEIGHT GAIN;

BIOPSY; DUODENUM; ENDOSOMES; EPITHELIAL CELLS; FANCONI SYNDROME; HUMANS; ILEUM; INCLUSION BODIES; INFANT; INFANT, NEWBORN; INTESTINE, SMALL; KIDNEY; MALABSORPTION SYNDROMES; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MICROVILLI; MUCOLIPIDOSES; MUTATION; MYOSIN HEAVY CHAINS; MYOSIN TYPE V;

EID: 84859108601     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3182353773     Document Type: Article

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