Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …

Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant
disorders. The relative frequency of the different SCA subtypes varies broadly among …

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

Objective: To determine the optimal anthropometric cut-off points for predicting the likelihood
ratios of hypertension and diabetes in the Peruvian population. Design: A cross-sectional …

We aimed to assess the current genetics practice to manage patients with Lynch syndrome
(LS) across Latin America. A Latin American LS survey was sent out to 52 centres/registries …

Genetic Testing for Parkinson's Disease and Movement Disorders in Less Privileged Areas:
Barriers and Opportunities Genetic Testing for Parkinson's Disease and Movement Disorders in …

In this population study 1541 samples in total were collected and analyzed. The samples
were collected from five jurisdictions: North macro region (n= 272), Central macro region (n …

In Peru, 24,581 people were diagnosed with tuberculosis (TB) in 2020. Although TB
treatments are effective, 3.4–13% are associated with significant adverse drug reactions …

Introducción: Las enfermedades raras y huérfanas (ERH) constituyen un desafío actual
debido a la poca atención que se les da. Objetivo: Describir las características …

Objetivo: Elaborar una guía de práctica clínica peruana para el diagnóstico y tratamiento de
la Distrofia Muscular de Duchenne y Becker (DMD). Materiales y métodos: Se conformó un …