Methylmalonic acid, vitamin B12, renal function, and risk of all-cause mortality in the general population: results from the prospective Lifelines-MINUTHE study [PDF]
, 2020 Ineke J. Riphagen +11 more
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JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐year‐old child with cblB disorder who developed acute cardiomyopathy (CM).
Dalia Said, Aisha Al Shamsi
wiley +1 more source
The FASEB Journal, Volume 39, Issue 24, 31 December 2025.We investigated two models of mitochondrial dysfunction in podocytes, using two cell culture models: podocytes isolated from mice with Oma1 deletion (Oma1del) and mouse podocytes modified with an inducible knockdown of PHB2 (Phb2kd). OMA1 deficiency induced a glycolytic shift, enhanced glutamine anaplerosis, and sustained energy homeostasis after ...
Cem Özel +13 more
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Not So Rare: Errors of Metabolism during the Neonatal Period
, 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.
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LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction
Animal Genetics, Volume 56, Issue 6, December 2025.Abstract Vestibular disorders associated with hearing loss are indicative of inner ear dysfunction. We investigated a young cat presenting with deafness and vestibular signs. Magnetic resonance imaging of the brain revealed no abnormalities. No obvious visual impairment was reported on ophthalmological examination.
Assami‐Carina Perret +3 more
wiley +1 more source
بررسی سطح سرمی ويتامين B12، Folate و هموسيستئين در سالمندان سالم تهرانی [PDF]
, 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
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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]
, 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]
, 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
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Clinical Application of Liquid Chromatography Tandem Mass Spectrometry Using Dried Blood Spot as a More Rapid Method for Determination of Methylmalonic Acid, Propionylcarnitine, and Total Homocysteine [PDF]
, 2020 Hiroyuki Iijima +2 more
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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]
, 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
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