Results 101 to 110 of about 5,085,322 (244)

Higher vitamin B12 from mid‐ to late life is related to slower rates of cognitive decline

open access: yesAlzheimer's &Dementia, Volume 21, Issue 10, October 2025.
Abstract INTRODUCTION Evidence is needed to evaluate whether low vitamin B12 from mid‐ to late life, either alone or in the presence of elevated folate, is associated with cognitive decline. METHODS Participants from the Framingham Heart Study without baseline dementia who had ≥ 2 measures of a three‐component vitamin B12 indicator (3cB12) and ...
Francesca R. Marino   +12 more
wiley   +1 more source

Not So Rare: Errors of Metabolism during the Neonatal Period

open access: yes, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

بررسی سطح سرمی ويتامين B12، Folate و هموسيستئين در سالمندان سالم تهرانی [PDF]

open access: yes, 2009
زمينه و هدف: از آنجائيکه جذب کوبالامين اغلب در سالمندان کاهش می‌يابد، کمبود ويتامين B12 يکی از مشکلات شايع در اين افراد است. تحقيقات اخير نشان می‌دهند که ميزان ناکافی ويتامين B12 ممکن است خطر ابتلا به بيماری‌های آترواسکلروتيک و نورودژنراتيو را افزايش دهد.
خدابنده‌لو, نیلوفر   +4 more
core  

Cloning and expression of the Propionibacterium shermanii methylmalonyl-CoA epimerase gene in Escherichia coli : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University [PDF]

open access: yes, 1994
Genomic DNA was isolated from Propionibacterium shermanii (52W). A 454 bp DNA fragment coding for the methylmalonyl-CoA epimerase (EC 5.1.99.1, subsequently referred to as epimerase) was amplified from genomic DNA by the polymerase chain reaction using ...
Saafi, 'Etuate Lui
core  

Inborn errors of metabolism: a clinical overview [PDF]

open access: yes, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

open access: yesInternational Journal of Neonatal Screening
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA.
Evelina Maines   +11 more
doaj   +1 more source

Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia [PDF]

open access: yes, 2013
We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in
George Imataka   +6 more
core   +1 more source

Maleic Acid – but Not Structurally Related Methylmalonic Acid – Interrupts Energy Metabolism by Impaired Calcium Homeostasis

open access: yesPLoS ONE, 2015
Maleic acid (MA) has been shown to induce Fanconi syndrome via disturbance of renal energy homeostasis, though the underlying pathomechanism is still under debate.
A. Tuncel   +6 more
semanticscholar   +1 more source

Evaluation of peripheral and autonomic nervous systems dysfunctions in patients with Parkinson’s disease

open access: yesThe Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Peripheral neuropathy (PN) is increasingly recognized in Parkinson’s disease (PD). This study aimed to evaluate peripheral nerve and autonomic nervous system dysfunction in PD.
Osama A. Ragab   +2 more
doaj   +1 more source

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