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List of works by Carlos E Prada

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.

scientific article

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

scientific article published on 24 December 2020

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

scientific article published on 21 November 2020

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings

scientific article published on 2 September 2014

Cardiac Rhabdomyomas in Tuberous Sclerosis Complex.

scientific article published on 8 November 2017

Case report: Left ventricular noncompaction cardiomyopathy and RASopathies

scientific article published on 11 September 2017

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia

scientific article published on 10 December 2020

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

scientific article

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy

scientific article published on 18 March 2010

Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

scientific article

Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients With Heart Failure in the Cardiovascular Foundation of Colombia (ANVIAS): Study Protocol

scientific article published on 09 June 2016

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant

scientific article published on 8 November 2012

Endothelial dysfunction and preeclampsia: role of oxidative stress

scientific article

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13

scientific article published on 16 May 2019

Genetic Causes of Macroglossia: Diagnostic Approach ⬇️

scientific article published on January 16, 2012

Globus pallidus involvement as initial presentation of methylmalonic acidemia

scientific article published on 21 April 2014

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

scientific article published on 28 March 2019

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition ⬇️

scientific article published on October 26, 2012

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

scientific article published on 12 December 2014

Neuronopathic lysosomal storage diseases: clinical and pathologic findings.

scientific article published on January 2013

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis

scientific article published on 11 August 2020

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

scientific article published on 9 April 2015

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States

scientific article published on 05 December 2020

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

scientific article published on 01 September 2019

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy

scientific article published on 14 February 2019

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1

scientific article published on 08 February 2019

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

scientific article published on 29 July 2015

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

scientific article published on 17 August 2017

Vitamin D deficiency and pre-eclampsia in Colombia: PREVitD study.

scientific article published on 14 March 2018

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