Ana M. Bahamon-Zarante
Bogota, DC, Colombia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Diagnosis, treatment, and follow-up of Fabry disease in pediatrics.
Journal: Molecular genetics and metabolism
Published: October 09, 2025
Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.
Journal: BMC medical genomics
Published: September 16, 2025
Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.
Journal: BMC medical genomics
Published: August 31, 2025
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2.
Journal: Clinical dysmorphology
Published: March 12, 2025
Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.
Journal: Movement disorders clinical practice
Published: December 30, 2024
Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients
Journal: Revista de neurologia
Published: May 14, 2024
Diagnosis, treatment, and follow-up of patients with hypophosphatasia.
Journal: Endocrine
Published: April 04, 2024
Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia.
Journal: Orphanet journal of rare diseases
Published: March 01, 2024
Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene.
Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Published: November 27, 2023
Showing 1-9 of 9
Last Updated: 09/26/2026