Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs,
predominantly the central nervous system. Since treatment for a large number of IMDs is …

Inherited metabolic disorders (IMDs) are genetic disorders that cause a disruption of a
specific metabolic pathway leading to biochemical, clinical and pathophysiological …

Neonates admitted to the intensive care unit are at risk of brain injury. Importantly, infants
with signs of neurological impairment need prompt diagnosis to guide intervention. Cranial …

Mitochondrial disorders represent a diverse and complex group of entities typified by
defective energy metabolism. The mitochondrial oxidative phosphorylation system is …

PubMed, Scopus, Google scholar, and the web of science were searched for studies
reported in the last 20 years (1997–30/10/2020). The data was searched and archived by …

Inherited metabolic disorders represent a large, heterogeneous and growing group of inborn
errors of metabolism, 1–8 which due to the rarity of individual disorders, often nonspecific …

Patterns of neonatal hypoxic-ischaemic brain injury (HIBI) are fairly well known. There are,
however, other diagnoses with imaging patterns that may mimic HIBI. A review of MRI …

Objectives: To evaluate diagnostic capability of brain magnetic resonance imaging (MRI) in
detection of inherited neurometabolic disorders. Methods: This retrospective observational …

Neurometabolische Erkrankungen präsentieren sich mit einer Vielzahl an Symptomen und
in unterschiedlichen Lebensabschnitten. Ihnen gemeinsam ist, dass es sich zumeist um …

Значимыми факторами риска развития патологии органов желудочно-кишечного
тракта (ЖКТ) являются наследственная предрасположенность, неблагоприятные …