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   Articles with "syrup urine" as a keyword



Functional connectivity changes in mouse models of maple syrup urine disease.

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recommendations! Published in 2025 at "Cerebral cortex"

DOI: 10.1093/cercor/bhaf040

Abstract: Maple syrup urine disease is a rare metabolic disorder that results in neurodevelopmental injury despite dietary therapy. While structural neuroimaging has shown a characteristic pattern of edema and white matter injury, no functional neuroimaging studies… read more here.

Keywords: syrup urine; maple syrup; urine disease; connectivity ... See more keywords

Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.

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recommendations! Published in 2022 at "Laboratory medicine"

DOI: 10.1093/labmed/lmac034

Abstract: OBJECTIVE Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. METHODS… read more here.

Keywords: maple syrup; syrup urine; pathogenic homozygous; dbt gene ... See more keywords

Long‐term results of liver transplantation for maple syrup urine disease: A single‐center experience in Turkey

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recommendations! Published in 2023 at "Pediatric Transplantation"

DOI: 10.1111/petr.14464

Abstract: Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder. Despite the advances in medical nutrition therapies, classical phenotype causes severe neurological disorders and sudden death. It is known that MSUD patients do not… read more here.

Keywords: long term; maple syrup; syrup urine; transplantation ... See more keywords

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant

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recommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-024-03411-7

Abstract: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by variants in any of the following genes: BCKDHA, BCKDHB, and DBT gene. Previous reports have highlighted a variety of common causing… read more here.

Keywords: msud; thai; syrup urine; maple syrup ... See more keywords

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach

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recommendations! Published in 2025 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-025-03533-6

Abstract: Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain… read more here.

Keywords: disease; diagnosis management; syrup urine; maple syrup ... See more keywords

Teaching NeuroImage: Optic Pathway Involvement in Maple Syrup Urine Disease

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recommendations! Published in 2022 at "Neurology"

DOI: 10.1212/wnl.0000000000201290

Abstract: A 10-day-old neonate presented with vomiting and irritability. Diffusion-weighted imaging showed abnormal signal intensities, including characteristic involvement of the optic pathway (Figure, A and B). Maple syrup urine disease (MSUD) was suspected. Blood tests confirmed… read more here.

Keywords: maple syrup; optic pathway; involvement; syrup urine ... See more keywords

Identification of gene mutations in six Chinese patients with maple syrup urine disease

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recommendations! Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1132364

Abstract: Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of… read more here.

Keywords: maple syrup; disease; syrup urine; high throughput ... See more keywords

A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD)

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recommendations! Published in 2023 at "Healthcare"

DOI: 10.3390/healthcare11020178

Abstract: A metabolic disorder is due to a gene mutation that causes an enzyme deficiency which leads to metabolism problems. Maple Syrup Urine Disease (MSUD) is one of the most common and severe hereditary metabolic disorders… read more here.

Keywords: system; maple syrup; food; syrup urine ... See more keywords

Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease

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recommendations! Published in 2023 at "Healthcare"

DOI: 10.3390/healthcare11030301

Abstract: Maple syrup urine disease (MSUD) is a metabolic disorder characterized by a difficulty to digest and process proteins necessary for growth. To monitor and maintain the ideal growth of children with MSUD, caregivers need to… read more here.

Keywords: maple syrup; tool; msud; syrup urine ... See more keywords

Intraoperative error in estimation of blood loss due to change in the size of abdominal swab

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recommendations! Published in 2018 at "Indian Journal of Anaesthesia"

DOI: 10.4103/ija.ija_205_18

Abstract: 1. Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, et al. Liver transplantation for classical maple syrup urine disease: Long-term follow-up in 37 patients and comparative United Network for Organ Sharing… read more here.

Keywords: maple syrup; urine disease; intraoperative error; syrup urine ... See more keywords