Results 41 to 50 of about 13,177 (269)
Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defects [PDF]
, 2016 Proper function of endoplasmic reticulum (ER) and mitochondria is crucial for cellular homeostasis, and dysfunction at either site as well as perturbation of mitochondria-associated ER membranes (MAMs) have been linked to neurodegenerative and metabolic ...
Desviat, Lourdes R. +4 more
core +2 more sources
FEVR-Like Presentation of Homocystinuria
Case Reports in Ophthalmological Medicine, 2014 A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria.
Lorena A. Montalvo +4 more
doaj +1 more source
International Journal of Neonatal Screening, 2020 Glutaric aciduria type 1, homocystinuria, isovaleric acidaemia, long-chain hydroxyacyl CoA dehydrogenase deficiency and maple syrup urine disease are all inborn errors of metabolism that can be detected through newborn bloodspot screening.
Alice Bessey +3 more
doaj +1 more source
Early Development of Newborn Screening for HCU and Current Challenges
International Journal of Neonatal Screening, 2021 Classic homocystinuria (HCU) was added to newborn screening (NBS) by Robert Guthrie a few years after the disorder was first described. The justification for NBS was similar to that for PKU, that presymptomatic identification and early dietary treatment ...
Harvey L. Levy
doaj +1 more source
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]
, 2015 Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins +25 more
core +1 more source
Homocystinuria with Stroke and Positive Familial History
Advanced Biomedical Research, 2017 Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities.
Ali Mazaheri +2 more
doaj +1 more source
Trial Readiness: Understanding the Natural History of Rare Diseases. [PDF]
J Inherit Metab DisABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Opladen T +6 more
europepmc +2 more sources
Effect of Combination Folic Acid, Vitamin B6 , and Vitamin B12 Supplementation on Fracture Risk in Women: A Randomized, Controlled Trial. [PDF]
, 2017 Epidemiologic studies have demonstrated an association of elevated plasma homocysteine levels with greater bone resorption and fracture risk. Vitamins B12 , B6 , and folic acid are cofactors in homocysteine metabolism, and supplementation with B vitamins
Bauer, Douglas C +8 more
core +1 more source
Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction. Homocystinuria is an autosomal recessively inherited defect leading to hyperhomocysteinemia and associated with ocular manifestations, mainly myopia and ectopia lentis. Case outline.
Jelić-Vuković Marija +5 more
doaj +1 more source
Journal of Medical Case Reports, 2008 Introduction Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. Case presentation This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive ...
Maillot Francois +2 more
doaj +1 more source