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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Most rare disease patients (75–50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding dis...
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Open AccessFrom periphery immunity to central domain through clinical interview as a new insight on schizophrenia
Identifying disease predictors through advanced statistical models enables the discovery of treatment targets for schizophrenia. In this study, a multifaceted clinical and laboratory analysis was conducted, in...
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Article
Open AccessCongenital disorders of glycosylation: narration of a story through its patents
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, r...
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Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency
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Open AccessAntidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania
Preclinical evidence suggests that antidepressants (ADs) may differentially influence mitochondrial energetics. This study was conducted to investigate the relationship between mitochondrial function and illne...
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Open AccessGalactose epimerase deficiency: lessons from the GalNet registry
Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficien...
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Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism
Numerous proteins are glycosylated with monosaccharides and/or oligosaccharide structures, also termed glycans, attached to the polypeptide chain. Most extracellular proteins, such as serum proteins, most memb...
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Disorders of the Pyruvate Metabolism and the Krebs Cycle
This chapter focuses on pyruvate metabolism disorders, two classic Krebs cycle disorders (2-oxoglutaric aciduria and fumarase deficiency) and two other disorders of the Krebs cycle, severely affecting mitochon...
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Open AccessEarly-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice
Exposure to antibiotic treatment has been associated with increased vulnerability to various psychiatric disorders. However, a research gap exists in understanding how adolescent antibiotic therapy affects beh...
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Open AccessD-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-...
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Open AccessSpontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement ...
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Open AccessLiver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder...
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Open AccessImpaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice
Mitochondria play a critical role in bioenergetics, enabling stress adaptation, and therefore, are central in biological stress responses and stress-related complex psychopathologies. To investigate the effect...
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Elevated sorbitol underlies a heritable neuropathy
A new study identifies sorbitol dehydrogenase (SORD) deficiency as a slowly progressive hereditary motor axonopathy caused by a genetic defect in the second step of the polyol pathway, thus leading to elevated...
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Liver involvement in kidney disease and vice versa
The liver and kidneys are often similarly affected by a single disease. This is the case in metabolic, immunological, toxic, and infectious diseases, and in the different congenital malformation syndromes. Als...
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Recognizable phenotypes in CDG
Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic...
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Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is chara...
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Open AccessPublic and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation
Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by pati...
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