ArticleGenetics in medicine : official journal of the American College of Medical Genetics2013
Renal growth in isolated methylmalonic acidemia.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Chronic kidney disease in propionic acidemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Trial
- A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Trial
- mRNA-based therapies: current progress and future prospects for treating kidney disease.Clinical and experimental nephrology · 2026Review
- Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.Kidney international reports · 2024Article
- Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.Human genomics · 2024Article
- Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.Journal of inherited metabolic disease · 2023Review
- Methylmalonic Acid Impairs Cell Respiration and Glutamate Uptake in C6 Rat Glioma Cells: Implications for Methylmalonic Acidemia.Cellular and molecular neurobiology · 2023Article
- Biomarkers for drug development in propionic and methylmalonic acidemias.Journal of inherited metabolic disease · 2022Review
- Identification of Novel Phenotypes Correlated with CKD: A Phenotype-Wide Association Study.International journal of medical sciences · 2022Article
- Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.Cellular and molecular life sciences : CMLS · 2021Review
- 1-Genetics in medicine : official journal of the American College of Medical Genetics · 2021Observational
- Long-term renal outcome in methylmalonic acidemia in adolescents and adults.Orphanet journal of rare diseases · 2021Article
- An expanding spectrum of complications in isolated methylmalonic aciduria.Journal of mother and child · 2020Review
- Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related toMolecular genetics and metabolism reports · 2020Article
- Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.Molecular genetics and metabolism · 2019Review
- Perioperative characteristics and management of liver transplantation for isolated methylmalonic acidemia-the largest experience in China.Hepatobiliary surgery and nutrition · 2019Article
- Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging.Science advances · 2019Article
- The Value of Liver Transplantation for Methylmalonic Acidemia.Frontiers in pediatrics · 2019Review
- FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.JCI insight · 2018Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
purposeWe sought to predict renal growth based on clinical and metabolic parameters in patients with isolated methylmalonic acidemia, a group of disorders associated with chronic kidney disease.
methodsFifty patients with methylmalonic acidemia, followed from 2004 to 2011, were classified by molecular genetics and studied using a combined cross-sectional and longitudinal design that included renal ultrasound examinations, anthropometric measurements, and metabolic phenotyping. Renal length was compared with that of healthy controls and modeled to other clinical parameters using multiple-regression analyses.
resultsComparisons with age-matched controls showed that renal length in subjects with methylmalonic acidemia was significantly decreased (P < 0.05). Stepwise regression modeling found that combinations of height, serum cystatin C, and serum methymalonic acid concentrations best predicted kidney size. The regression equations used to generate methylmalonic acidemia kidney nomograms were renal length (cm) = 6.79 + 0.22 × age for the controls and 6.80 + 0.09 × age for the methylmalonic acidemia cohort (P < 0.001; constant and slope).
conclusionRenal length, reflective of kidney growth, significantly decreased in patients with methylmalonic acidemia over time as compared with controls and was predictable with select clinical parameters. Cystatin C and serum methylmalonic acid concentrations were highly correlated with smaller kidneys and decreased renal function in this patient population.
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