Soledad Kleppe

Soledad Kleppe

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Soledad Kleppe

Soledad Kleppe

Publications by authors named "Soledad Kleppe"

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10Publications

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Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

J Clin Endocrinol Metab 2014 Nov 22;99(11):E2451-6. Epub 2014 Jul 22.

Department of Molecular and Human Genetics (A.R., D.L., R.G., P.C., B.L.), Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) (D.B., F.C., H.C., I.B.), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Human Genome Sequencing Center (J.T.L., R.G.), Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), Baylor College of Medicine, Houston, Texas 77030; Unidad de Metabolismo (S.K.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Unidad de Nefrología (J.M.L., G.V.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Howard Hughes Medical Institute (B.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-1517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223446PMC
November 2014

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Mol Genet Metab 2013 Jul 17;109(3):260-8. Epub 2013 Apr 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.006DOI Listing
July 2013

Citrin deficiency, a perplexing global disorder.

Mol Genet Metab 2009 Jan 25;96(1):44-9. Epub 2008 Nov 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.007DOI Listing
January 2009

Ethical and legal implications of genetic testing in androgen insensitivity syndrome.

J Pediatr 2007 Apr;150(4):434-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.12.037DOI Listing
April 2007

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

J Nutr 2004 10;134(10 Suppl):2775S-2782S; discussion 2796S-2797S

Department of Molecular and Human Genetics, Children's Nutritional Research Center, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/jn/134.10.2775SDOI Listing
October 2004

Urea Cycle Disorders.

Curr Treat Options Neurol 2003 Jul;5(4):309-319

Department of Molecular and Human Genetics and Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s11940-003-0037-5DOI Listing
July 2003