In addition to the common types of diabetes mellitus, two major monogenic diabetes forms
exist. Maturity-onset diabetes of the young (MODY) represents a heterogenous group of …

The concept of precision medicine is becoming increasingly popular. The use of big data,
genomics and other “omics” like metabolomics, proteomics and transcriptomics could make …

Context The genetic basis of human sex development is slowly being elucidated, and> 40
different genetic causes of differences (or disorders) of sex development (DSDs) have now …

A lo largo de siete ediciones y más de treinta años, la obra Atención Primaria se ha
consolidado como un referente para los profesionales de la medicina familiar y comunitaria …

Identifying new causes of permanent neonatal diabetes (PNDM)(diagnosis< 6 months)
provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting …

Aim 6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is a rare imprinting
disorder characterized by uncontrolled hyperglycemia during the first 6 months of life. The …

OBJECTIVE Central nervous system (CNS) features in children with permanent neonatal
diabetes (PNDM) due to KCNJ11 mutations have a major impact on affected families …

Aim To examine the extent to which discriminatory testing using antibodies and Type 1
diabetes genetic risk score, validated in European populations, is applicable in a non …

Abstract Background Wolcott-Rallison syndrome (WRS) is caused by a biallelic mutation in
the gene encoding eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3) on …

En la actualidad la diabetes mellitus representa un gran problema de salud pública. Su gran
prevalencia e incidencia la han puesto como una de las enfermedades crónicas más …