Results 71 to 80 of about 5,085,322 (244)

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing [PDF]

, 2015
The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome ...
Constantinou, Panayiotis, D'Allesandro, Mariella, Dean, John, Deciphering Developmental Disorders Study, Hauptfleisch, Catherine, Lochhead, Paul, Samant, Shalaka   +6 more
core   +1 more source

Methylmalonic Acid and Homocysteine as Indicators of Vitamin B12 Deficiency in Patients with Gastric Cancer after Gastrectomy

Nutrients, 2019
Vitamin B12 deficiency is a common complication in patients after gastrectomy. Elevated methylmalonic acid (MMA) and homocysteine are better indications of vitamin B12 deficiency than vitamin B12 serum level.
Sae-Mi Lee, Jongwon Oh, M. Chun, Soo-Youn Lee   +3 more
semanticscholar   +1 more source

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Pitfalls in the diagnostic evaluation of subacute combined degeneration [PDF]

, 2015
We report a case of a 43-year-old man presenting with a 2-week history of painless ascending sensory disturbances, suspected to be suffering from acute inflammatory polyneuropathy.
Linnebank, M, Müller, D, Tarnutzer, A A, Ulrich, A   +3 more
core   +1 more source

Age-specific reference ranges are needed to interpret serum methylmalonic acid concentrations in the US population.

American Journal of Clinical Nutrition, 2019
BACKGROUND Serum vitamin B-12 is measured to evaluate vitamin B-12 status. Serum methylmalonic acid (MMA) is a specific functional indicator of vitamin B-12 status; however, concentrations increase with impaired renal function.
E. Mineva, M. Sternberg, Mindy Zhang, Y. Aoki, Renee J Storandt, R. Bailey, C. Pfeiffer   +6 more
semanticscholar   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, EarlyView.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

Cell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava, Sidharth Bhasin, Poonam Sharma, Omkar Mahadeo Desai, Kshitiz Yadav, Ayushma, Rohan Chakraborty, Suhel Parvez, Rajesh Ramachandran, Shilpi Minocha   +9 more
wiley   +1 more source

Monitoring Methylmalonic Aciduria by NMR Urinomics

Molecules, 2020
The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to ...
Alina Nicolescu, Daniela Blanita, Chiril Boiciuc, Victoria Hlistun, Mihaela Cristea, Dorina Rotaru, Ludmila Pinzari, Ana Oglinda, Adela Stamati, Isabela Tarcomnicu, Andreea Tutulan-Cunita, Danae Stambouli, Sergiu Gladun, Ninel Revenco, Natalia Uşurelu, Calin Deleanu   +15 more
doaj   +1 more source

How do we evaluate a marginally low B12 level? [PDF]

, 2007
The best way to evaluate a low-normal B12 level is to check serum methylmalonic acid and homocysteine levels1 (strength of recommendation [SOR]: B, based on consistent level 2 or 3 studies).
Cravens, David D., Nashelsky, Joan
core  

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. [PDF]

, 2016
Using 3D organotypic rat brain cell cultures in aggregates we recently identified 2-methylcitrate (2-MCA) as the main toxic metabolite for developing brain cells in methylmalonic aciduria.
Ballhausen, D., Braissant, O., Cudré-Cung, H.P., do Vale-Pereira, S., Henry, H., Ivanisevic, J., Remacle, N., Tavel, D., Zavadakova, P.   +8 more
core   +1 more source