The bench-to-bedside transition: Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: New pathophysiology insights

Nephrology Dialysis Transplantation

Volumn 29, Issue , 2014, Pages iv113-iv116

  Mihout, Fabrice ^a   Devuyst, Olivier ^b   Bensman, Albert ^c   Brocheriou, Isabelle ^a,d   Ridel, Christophe ^a   Wagner, Carsten A ^b   Mohebbi, Nilufar ^b   Boffa, Jean Jacques ^a,d,e   Plaisier, Emmanuelle ^a,d,e   Ronco, Pierre ^a,d,e  

^a HÔPITAL TENON   (France)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e Urgences Néphrologiques et Transplantation Rénale Hôpital Tenon 4   (France)

Author keywords

Fanconi Bickel; Ketosic acidosis; Metabolic acidosis; Proximal tubular nephropathy; SLC12A2

Indexed keywords

CALCITRIOL; GLUCONATE POTASSIUM; GLUCOSE TRANSPORTER 2; PHOSPHATE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; SLC2A2 PROTEIN, HUMAN;

ADULT; AMINOACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOACCUMULATION; BIOCOMPATIBILITY; CASE REPORT; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DISEASE EXACERBATION; DISEASE SEVERITY; ELECTRON MICROSCOPY; FANCONI BICKEL SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GLOMERULUS FILTRATION RATE; GLUCOSURIA; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERCALCIURIA; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; KETOACIDOSIS; KIDNEY BIOPSY; KIDNEY FUNCTION; KIDNEY PROXIMAL TUBULE; METABOLIC ACIDOSIS; PRIORITY JOURNAL; RNA SPLICING; ACIDOSIS; ACUTE DISEASE; FANCONI RENOTUBULAR SYNDROME; FANCONI-BICKEL; GENETICS; HOMOZYGOTE; INFANT; KETOSIC ACIDOSIS; MALE; MUTATION; PATHOPHYSIOLOGY; PROXIMAL TUBULAR NEPHROPATHY; SLC12A2;

FANCONI-BICKEL; KETOSIC ACIDOSIS; METABOLIC ACIDOSIS; PROXIMAL TUBULAR NEPHROPATHY; SLC12A2;

ACIDOSIS; ACUTE DISEASE; FANCONI SYNDROME; GLUCOSE TRANSPORTER TYPE 2; HOMOZYGOTE; HUMANS; INFANT; KIDNEY TUBULES, PROXIMAL; MALE; MUTATION;

EID: 84910132688     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfu018     Document Type: Article

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