Works matching Maple syrup urine disease
Results: 506
Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.
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- Clinical Case Reports, 2018, v. 6, n. 10, p. 1989, doi. 10.1002/ccr3.1774
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- Article
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.
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- 2020
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- journal article
ENFERMEDAD DE LA ORINA CON OLOR A JARABE DE ARCE: REPORTE DE DOS CASOS.
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- Peruvian Journal of Maternal Perinatal Research / Revista Peruana de Investigación Materno Perinatal, 2024, v. 13, n. 2, p. 39, doi. 10.33421/inmp.2024391
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- Article
Canlı donörden akçaağaç şurup idrar hastasına yapılan karaciğer nakli: İki olgu sunumu.
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- Türk Pediatri Arşivi, 2018, v. 53, n. 2, p. 113, doi. 10.5152/TurkPediatriArs.2018.3710
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- Article
A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene.
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- Iranian Journal of Neonatology, 2017, v. 8, n. 3, p. 72, doi. 10.22038/ijn.2017.18533.1212
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- Article
EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.
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- Neurodiagnostic Journal, 2021, v. 61, n. 3, p. 123, doi. 10.1080/21646821.2021.1935628
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Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease.
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- Egyptian Journal of Medical Human Genetics, 2018, v. 19, n. 1, p. 37, doi. 10.1016/j.ejmhg.2017.10.001
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Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7490, doi. 10.3390/ijms21207490
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Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease.
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- Blood Purification, 2016, v. 42, n. 1, p. 27, doi. 10.1159/000443783
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- Article
Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series.
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- Pediatric Transplantation, 2011, v. 15, n. 1, p. 58, doi. 10.1111/j.1399-3046.2010.01411.x
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- Article
Maple syrup urine disease: mechanisms and management.
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- Application of Clinical Genetics, 2017, v. 10, p. 57, doi. 10.2147/tacg.s125962
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- Article
Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-73
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BRAIN DAMAGE REVERSAL ON TREATMENT IN MAPLE SYRUP URINE DISEASE: A CASE REPORT.
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- 2018
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- Case Study
Acute axonal neuropathy in maple syrup urine disease.
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- 2001
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- journal article
Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease.
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- Dermatology Online Journal, 2019, v. 25, n. 9, p. 1, doi. 10.5070/d3259045509
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- Article
Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease.
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- Healthcare (2227-9032), 2023, v. 11, n. 3, p. 301, doi. 10.3390/healthcare11030301
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A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD).
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- Healthcare (2227-9032), 2023, v. 11, n. 1, p. 178, doi. 10.3390/healthcare11020178
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Maple urine syrup disease -- two cases presentations.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 417
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CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT.
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- Khyber Medical University Journal, 2018, v. 10, n. 1, p. 44, doi. 10.35845/kmuj.2018.18005
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- Article
The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.
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- Nutrients, 2024, v. 16, n. 18, p. 3145, doi. 10.3390/nu16183145
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- Article
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 302, doi. 10.4274/jcrpe.galenos.2021.2021.0173
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- Article
Classical Maple Syrup Urine Disease successfully treated with living donor liver transplantation.
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- Annals of Medical of Research, 2021, v. 28, n. 4, p. 842, doi. 10.5455/annalsmedres.2020.04.290
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The use of botulinum toxin and epidural analgesia for the treatment of spasticity and pain in a patient with maple syrup urine disease.
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- 2012
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- Case Study
Imaging findings in maple syrup urine disease: A case report.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 103, doi. 10.4103/JPN.JPN_38_17
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Neuroradiological findings in maple syrup urine disease.
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- 2013
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- Case Study
Case report: maple syrup urine disease with a novel DBT gene mutation.
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- 2019
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- journal article
The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 70, doi. 10.3390/ijns10040070
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- Article
Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease.
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- Molecular Medicine Reports, 2019, v. 19, n. 6, p. 4872, doi. 10.3892/mmr.2019.10133
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- Article
Administration of branched-chain amino acids alters epigenetic regulatory enzymes in an animal model of Maple Syrup Urine Disease.
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- Metabolic Brain Disease, 2021, v. 36, n. 2, p. 247, doi. 10.1007/s11011-020-00631-1
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Melatonin ameliorates oxidative stress and DNA damage of rats subjected to a chemically induced chronic model of Maple Syrup Urine Disease.
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- Metabolic Brain Disease, 2020, v. 35, n. 6, p. 905, doi. 10.1007/s11011-020-00572-9
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- Article
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
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- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 741, doi. 10.1007/s11011-017-0168-0
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Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
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- Metabolic Brain Disease, 2017, v. 32, n. 3, p. 765, doi. 10.1007/s11011-017-9959-6
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In vivo neuroprotective effect of L-carnitine against oxidative stress in maple syrup urine disease.
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- Metabolic Brain Disease, 2011, v. 26, n. 1, p. 21, doi. 10.1007/s11011-011-9238-x
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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
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- 2020
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- journal article
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
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- 2018
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- journal article
Electrochemical On‐site Amino Acids Detection of Maple Syrup Urine Disease Using Vertically Aligned Nickel Nanowires.
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- Electroanalysis, 2018, v. 30, n. 7, p. 1505, doi. 10.1002/elan.201800103
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Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report.
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- Child's Nervous System, 2015, v. 31, n. 9, p. 1625, doi. 10.1007/s00381-015-2756-9
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A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease.
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- Zahedan Journal of Research in Medical Sciences, 2016, v. 18, n. 10, p. 1, doi. 10.17795/zjrms-3399
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Maple Syrup Urine Disease (MSUD): A Case with Long-Term Follow-up after Liver Transplantation.
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- 2013
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- Case Study
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
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- 2022
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- journal article
Direct analysis of dried blood spots by in-line desorption combined with high-resolution chromatography and mass spectrometry for quantification of maple syrup urine disease biomarkers leucine and isoleucine.
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- Analytical & Bioanalytical Chemistry, 2011, v. 400, n. 1, p. 237, doi. 10.1007/s00216-011-4740-x
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Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes.
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- Journal of Pediatric Research, 2018, v. 5, p. 44, doi. 10.4274/jpr.89421
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A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00145
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Clinical utility of low branched-chain amino acid modular diets in patients with isovaleric aciduria and maple syrup urine disease.
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- Malaysian Journal of Nutrition, 2021, v. 27, n. 2, p. 349, doi. 10.31246/mjn-2020-0071
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- Article
Urgencias metabólicas y genéticas en la Unidad de Recién Nacidos: enfermedad de la orina con olor a jarabe de arce.
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- Nutrición Hospitalaria, 2015, v. 32, n. 1, p. 420, doi. 10.3305/nh.2015.32.1.8996
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Maple syrup urine disease: tailoring a plan for pregnancy.
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- 2018
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- Publication type:
- journal article
Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect
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- International Journal of Developmental Neuroscience, 2013, v. 31, n. 1, p. 21, doi. 10.1016/j.ijdevneu.2012.10.109
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Molecular basis of various forms of maple syrup urine disease in Chilean patients.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1616
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- Article
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 383, doi. 10.1002/mgg3.88
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Neonatal case of classic maple syrup urine disease: Usefulness of <sup>1</sup>H-MRS in early diagnosis.
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- Pediatrics International, 2014, v. 56, n. 1, p. 112, doi. 10.1111/ped.12211
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- Article