The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana… - The American Journal of …, 2020 - cell.com
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
Founder effects of spinocerebellar ataxias in the American continents and the Caribbean
R Rodríguez-Labrada, AC Martins, JJ Magaña… - The Cerebellum, 2020 - Springer
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant
disorders. The relative frequency of the different SCA subtypes varies broadly among …
disorders. The relative frequency of the different SCA subtypes varies broadly among …
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
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 …
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …
Cut-off points of anthropometric markers associated with hypertension and diabetes in Peru: Demographic and Health Survey 2018
A Hernández-Vásquez, D Azañedo… - Public health …, 2021 - cambridge.org
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 …
ratios of hypertension and diabetes in the Peruvian population. Design: A cross-sectional …
[HTML][HTML] A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries
A Della Valle, BM Rossi, EI Palmero, M Antelo… - European Journal of …, 2019 - Elsevier
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 …
(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
AH Tan, M Cornejo-Olivas… - Movement …, 2024 - pubmed.ncbi.nlm.nih.gov
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 …
Barriers and Opportunities Genetic Testing for Parkinson's Disease and Movement Disorders in …
Genetic study with 21 autosomal STRs in five Peruvian macro regions for human identification purposes
MEB Valladolid, J Ge, B Budowle, CI Valdez… - Legal Medicine, 2022 - Elsevier
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 …
were collected from five jurisdictions: North macro region (n= 272), Central macro region (n …
GSTT1/GSTM1 Genotype and Anti-Tuberculosis Drug-Induced Hepatotoxicity in Peruvian Patients
L Jaramillo-Valverde, KS Levano, DD Tarazona… - International journal of …, 2022 - mdpi.com
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 …
treatments are effective, 3.4–13% are associated with significant adverse drug reactions …
Aseguramiento de la calidad en los laboratorios clínicos contemporáneos
L Figueroa-Montes - Revista Peruana de Investigación en …, 2023 - revistas.unheval.edu.pe
La presente revisión engloba como los avances tecnológicos y de gestión deberían articular
en el aseguramiento de la calidad, para garantizar el mejor desempeño analíticos de las …
en el aseguramiento de la calidad, para garantizar el mejor desempeño analíticos de las …