Signalment risk factors for cutaneous and renal glomerular vasculopathy (Alabama rot) in dogs in the UK [PDF]
, 2018 Seasonal outbreaks of cutaneous and renal glomerular vasculopathy (CRGV) have been reported annually in UK dogs since 2012, yet the aetiology of the disease remains unknown. The objectives of this study were to explore whether any breeds had an increased
Cardwell, J M +5 more
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1,25‐dihydroxyvitamin D 3 influences cellular homocysteine levels in murine preosteoblastic MC3T3‐E1 cells by direct regulation of cystathionine β‐synthase [PDF]
, 2011 High homocysteine (HCY) levels are a risk factor for osteoporotic fracture. Furthermore, bone quality and strength are compromised by elevated HCY owing to its negative impact on collagen maturation.
Boonen +40 more
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High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring [PDF]
, 2017 Methylenetetrahydrofolate reductase (MTHFR) generates methyltetrahydrofolate for methylation reactions. Severe MTHFR deficiency results in homocystinuria and neurologic impairment.
Bahous, RH +13 more
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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [PDF]
, 2017 The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC).
Baumgartner, Matthias R. +5 more
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Maternal BMI as a predictor of methylation of obesity-related genes in saliva samples from preschool-age Hispanic children at-risk for obesity. [PDF]
, 2017 BackgroundThe study of epigenetic processes and mechanisms present a dynamic approach to assess complex individual variation in obesity susceptibility. However, few studies have examined epigenetic patterns in preschool-age children at-risk for obesity ...
Barkin, Shari L +4 more
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Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2018 Summary: Most enzyme deficiencies in humans are inherited as autosomal recessive traits. The term dominant negative is applied to mutant alleles in which a mutant protein interferes in one way or another with the function of the normal protein being ...
Baumgartner, M.
core
Metabolism of sulfur compounds in homocystinurias [PDF]
, 2018 Viktor Kožich +6 more
openalex +1 more source
Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
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Sample Preparation for Determination of Biological Thiols by Liquid Chromatography and Electromigration Techniques [PDF]
, 2004 Wydrukowano z dostarczonych Wydawnictwu UŁ gotowych materiałówMajority of the bioanalytical or environmental methods do not use just one chromatografie or electrophoretic step, but rather involve several sample pretreatment steps which simplfy the ...
Bald, Edward
core
Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]
, 2017 Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong +34 more
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