The carotid bodies (CB) are peripheral chemoreceptors that sense changes in arterial blood
O 2, CO 2, and pH levels. Hypoxia, hypercapnia, and acidosis activate the CB, which …

A minority of cases of autism has been associated with several different organic conditions,
including bioenergetic metabolism deficiency. In a population-based study, we screened …

Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by
defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are …

Seventy sites of sills, flows and dikes from Northeastern Paraná Magmatic Province (PMP),
were submitted to paleomagnetic, chemical and radiometric analyses. The rocks are high in …

In the large group of genetically undetermined infantile-onset mitochondrial
encephalopathies, multiple defects of mitochondrial DNA-related respiratory-chain …

Background Creatine transporter deficiency is a monogenic cause of X-linked intellectual
disability. Since its first description in 2001 several case reports have been published but an …

In the present study we confirm the previously reported high frequency of biochemical
markers of mitochondrial dysfunction, namely hyperlactacidemia and increased …

Viruses that are typically benign sometimes invade the brainstem in otherwise healthy
children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities …

We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase
(GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with …

Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly
heterogeneous clinical spectrum is not explained by our current understanding of the …