Results 71 to 80 of about 2,508,935 (158)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Comorbidity Patterns Between Hearing Loss and Symptomatic Dizziness in Middle‐Aged and Older Adults

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 4, Page 389-400, August 2026.
ABSTRACT Objective To explore the comorbidity patterns between hearing loss and symptomatic dizziness (HL‐SD) in middle‐aged and older adults. Methods This cross‐sectional study used data from the 1999 to 2004 National Health and Nutrition Examination Survey (NHANES). After excluding incomplete data, 2961 participants aged 40–69 were analyzed. Logistic
Chun‐Yan Liu, Xiao‐Nan Wu, Jin Li, Jiao Zhang, Yun Gao, Da‐Yong Wang, Qiu‐Ju Wang   +6 more
wiley   +1 more source

A comparison of serum vitamin B12 and serum methylmalonic acid as diagnostic measures of cobalt status in cattle.

, 1990
In two trials an assessment was made of serum methylmalonic acid as a diagnostic criterion of cobalt status in housed cattle. Despite the small number of animals used the method showed some promise, and normal concentrations are tentatively suggested as ...
MacPherson, A., Paterson, J. E.
core   +5 more sources

Methylmalonic acidemia with homocystinemia causing subacute combined degeneration of the spinal cord : a case report [PDF]

Linchuang erke zazhi
Methylmalonic acidemia (MMA) is a relatively common inherited organic acid disorder. However, MMA-associated subacute combined degeneration of the spinal cord (SCD) in pediatric patients remains exceedingly rare, with insidious onset and high risk of ...
CHEN Liuwang, LIU Pan, XI Rongjuan, ZHANG Xianxia, ZHANG Yi, WEI Xingjiao, SU Min, YANG Yonghong, FU Yangxi
doaj   +1 more source

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia

Orphanet Journal of Rare Diseases
Background Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA ...
I.-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, Cheng-Yu Lee, Sheng-Bin Liang, Yann-Jang Chen   +5 more
doaj   +1 more source

Isolated methylmalonic acidemia: a case report.

, 2016
International audienceIsolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia.
Cristol, Jean-Paul, Boubal, Mathilde, Baleine, Julien, Es Sadki, Tarik, Sieso, Victor, Vallat, Catherine, Cambonie, Gilles, Badiou, Stéphanie, Vianey-Saban, Christine   +8 more
core   +1 more source

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

The 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, Ehab S. Mohamed, Mahmoud H. Nassar   +2 more
doaj   +1 more source

The Value of Liver Transplantation for Methylmalonic Acidemia

Frontiers in Pediatrics, 2019
Introduction: MMA is a rare autosomal recessive disorder with the manifestation of recurrent and severe episodes of acute metabolic decompensation or a variety of long-term complications that require timely treatment. While conventional long-term medical
Yi-Zhou Jiang, Yi-Zhou Jiang, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source

Urinary Methylmalonic Acid as an Indicator of Early Vitamin B12 Deficiency and Its Role in Polyneuropathy in Type 2 Diabetes

, 2020
The rising incidence of diabetes and its negative impact on quality of life highlights the urgent need to develop biomarkers of early nerve damage. Measurement of total vitamin B12 has some limitations.
Yuan-Tao Liu, Xiang-Hua Zhuang, Shi-Hong Chen, Ai-Li Sun, Xiao-Bo Li, Yi-Hong Ni, Xin-Hua Liu   +6 more
core  

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

International 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, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot   +11 more
doaj   +1 more source