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The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
An international questionnaire survey has been conducted to define better the natural history of homocystinuria due to cystathionine beta-synthase deficiency and permit evaluation of treatment. DataExpand
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide
The aim was to supplement the available data by collecting a large and diverse sample of newborns from different geographical areas and ethnic groups, and to examine international variations in the distribution of the 677C>T allele. Expand
Plasma homocysteine as a risk factor for vascular disease. The European Concerted Action Project.
An increased plasma total homocysteine level confers an independent risk of vascular disease similar to that of smoking or hyperlipidemia, and compared with nonusers of vitamin supplements, the small number of subjects taking such vitamins appeared to have a substantially lower risk ofascular disease, a proportion of which was attributable to lower plasma homocy steine levels. Expand
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring
Increased risk of Down syndrome was associated with the methylenetetrahydrofolate reductase (MTHFR) 1298C allele and the RFC 180G alleles, suggesting a role of maternal polymorphisms of homocysteine/folate pathway as risk factors for Down syndrome. Expand
Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP. Expand
Lysosomal storage diseases: from pathophysiology to therapy.
As knowledge has improved about the pathophysiology of lysosomal storage diseases, novel targets for therapy have been identified, and innovative treatment approaches are being developed. Expand
Therapeutic goals in the treatment of Gaucher disease.
Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition and an evidence-based consensus on contemporary therapeutic goals is obtained to arrive at a comprehensive guide to individualized management. Expand
A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
The cloned region within Xp22.3 where the CDPX gene has been assigned and three adjacent genes showing highly significant homology to the sulfatase gene family are isolated suggest that warfarin embryopathy might involve drug-induced inhibition of the same enzyme. Expand
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
Two new transcripts homologous to amino acid transporters, highly expressed in kidney and mapping in the LPI critical region are identified and Mutational analysis of both transcripts revealed that SLC7A7 (for solute carrier family 7, member 7) is mutated in LPI. Expand
Lysinuric protein intolerance: Reviewing concepts on a multisystem disease
Therapy requires a low protein diet, low‐dose citrulline supplementation, nitrogen‐scavenging compounds to prevent hyperammonemia, lysine, and carnitine supplements, and supportive therapy is available for most complications with bronchoalveolar lavage being necessary for alveolar proteinosis. Expand