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Publications by Jose E. Abdenur

Clinical, Genetic, and Pathologic Characterization of FKRP Mexican Founder Mutation C.1387A>G

Neurology: Genetics
NeurologyGenetics
2019English

Successful Diagnosis of HIBCH Deficiency From Exome Sequencing and Positive Retrospective Analysis of Newborn Screening Cards in Two Siblings Presenting With Leigh's Disease

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Effects of Hematopoietic Stem Cell Transplantation on Acyl-CoA Oxidase Deficiency: A Sibling Comparison Study

Journal of Inherited Metabolic Disease
Genetics
2014English

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

Journal of Inborn Errors of Metabolism and Screening
Child HealthGeneticsEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2017English

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