Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 181-183

  Vitoria, Isidro ^a   Dalmau, Jaime ^a   Ribes, Carmen ^a   Rausell, Dolores ^a   García, Ana María ^a   López Montiel, Javier ^b   Rubio, Vicente ^c,d  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b Genetaq   (Spain)

^c INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Aspartate glutamate antiporter; Citrullinemia type 2; CTLN2; Neonatal cholestasis; NICCD; SLC25A13

Indexed keywords

ALPHA FETOPROTEIN; CITRULLINE; METHIONINE; THREONINE; THYMOCYTE ANTIBODY; TYROSINE; CALCIUM BINDING PROTEIN; CARRIER PROTEIN; CITRIN; ORGANIC ANION TRANSPORTER; SLC25A13 PROTEIN, HUMAN;

ARTICLE; ARTIFICIAL MILK; CASE REPORT; CAUCASIAN; CHILD; CITRIN DEFICIENCY; DIET; GALACTOSURIA; GENE MUTATION; HEPATOMEGALY; HUMAN; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LABORATORY TEST; LACTOSE INTAKE; LOW CARBOHYDRATE DIET; MALE; NEWBORN; NUTRITIONAL DEFICIENCY; NUTRITIONAL SUPPORT; PRIORITY JOURNAL; PROTEIN DIET; SPAIN; TYROSINEMIA; URINARY EXCRETION; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; DEFICIENCY; DIET THERAPY; GENETICS; MUTATION; ROMANIA; URINE;

ASIAN CONTINENTAL ANCESTRY GROUP; CALCIUM-BINDING PROTEINS; CITRULLINE; DIET THERAPY; EUROPEAN CONTINENTAL ANCESTRY GROUP; HUMANS; METHIONINE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; ORGANIC ANION TRANSPORTERS; ROMANIA; SPAIN; THREONINE; TYROSINE;

EID: 84882863063     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.06.011     Document Type: Article

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