Luis Umaña

Luis Umaña

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Luis Umaña

Luis Umaña

Publications by authors named "Luis Umaña"

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9Publications

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Isolated Orotic Aciduria in an 11-Year-Old Boy.

Clin Chem 2020 Feb;66(2):396-397

Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1093/clinchem/hvz012DOI Listing
February 2020

Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.

J Pediatr Gastroenterol Nutr 2020 Jan;70(1):e19-e22

Division of Pediatric Gastroenterology, Hepatology, and Nutrition.

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http://dx.doi.org/10.1097/MPG.0000000000002517DOI Listing
January 2020

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.

J Child Neurol 2017 02 13;32(2):177-183. Epub 2016 Oct 13.

4 Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.

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http://dx.doi.org/10.1177/0883073816672391DOI Listing
February 2017

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.

J Child Neurol 2016 Feb 9;31(2):215-9. Epub 2015 Jun 9.

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

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http://dx.doi.org/10.1177/0883073815587946DOI Listing
February 2016

[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia].

Rev Salud Publica (Bogota) 2017 Jan-Feb;19(1):32-38

MD., Esp. Genética Médica. Instituto de Ortopedia Roosevelt. M. Sc. Genética Humana, Departamento de Morfología, Universidad Nacional de Colombia.

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http://dx.doi.org/10.15446/rsap.v19n1.55238DOI Listing
January 2016

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).

Am J Med Genet A 2011 Dec 3;155A(12):3071-4. Epub 2011 Nov 3.

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

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http://dx.doi.org/10.1002/ajmg.a.34296DOI Listing
December 2011

Mediated learning experience and concept maps: a pedagogical tool for achieving meaningful learning in medical physiology students.

Adv Physiol Educ 2008 Dec;32(4):312-6

Universidad Autónoma de Bucaramanga, Department of Physiology, Faculty of Medicine, Bucaramanga, Santander, Colombia.

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http://dx.doi.org/10.1152/advan.00021.2007DOI Listing
December 2008