Works matching DE "MAPLE syrup urine disease"
Results: 139
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
BRAIN DAMAGE REVERSAL ON TREATMENT IN MAPLE SYRUP URINE DISEASE: A CASE REPORT.
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- 2018
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- Case Study
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
One Community's Effort to Control Genetic Disease.
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- American Journal of Public Health, 2012, v. 102, n. 7, p. 1300, doi. 10.2105/AJPH.2011.300569
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- Article
Unusual Case of Acute Decompensated Maple Syrup Urine Disease in the Emergency Department.
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- Military Medicine, 2021, v. 186, p. e1037, doi. 10.1093/milmed/usaa402
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- Article
Unusual Case of Acute Decompensated Maple Syrup Urine Disease in the Emergency Department.
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- 2021
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- journal article
Isoleucine deficiency in a neonate treated for maple syrup urine disease masquerading as acrodermatitis enteropathica.
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- Indian Pediatrics, 2016, v. 53, n. 8, p. 738, doi. 10.1007/s13312-016-0922-0
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- Article
The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review.
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- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04135-7
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- Article
Avermectin biosynthesis: stable functional expression of branched chain α-keto acid dehydrogenase complex from Streptomyces avermitilis in Escherichia coli by selectively regulating individual subunit gene expression.
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- Biotechnology Letters, 2017, v. 39, n. 10, p. 1567, doi. 10.1007/s10529-017-2389-z
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- Article
Unusual Imaging Findings in Brain and Spinal Cord in Two Siblings With Maple Syrup Urine Disease.
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- Journal of Neuroimaging, 2013, v. 23, n. 4, p. 540, doi. 10.1111/j.1552-6569.2012.00746.x
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- Article
Inborn Errors of Metabolism Presenting in Childhood.
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- Journal of Neuroimaging, 2011, v. 21, n. 2, p. e117, doi. 10.1111/j.1552-6569.2011.00575.x
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- Article
A NEW CASE OF BCKDHB 508 (С-Т) HOMOZYGOUS GENE MUTATION IN MAPLE SYRUP URINE DISEASE.
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- Advances in Biology & Earth Sciences, 2017, v. 2, n. 2, p. 248
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- Article
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
Acrodermatitis dysmetabolica in an infant with maple syrup urine disease.
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- Clinical & Experimental Dermatology, 2016, v. 41, n. 6, p. 651, doi. 10.1111/ced.12876
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- Article
Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy.
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- 2013
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- Case Study
Acute Administration of Branched-Chain Amino Acids Increases the Pro-BDNF/Total-BDNF Ratio in the Rat Brain.
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- Neurochemical Research, 2015, v. 40, n. 5, p. 885, doi. 10.1007/s11064-015-1541-1
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- Article
Effect of Leucine Administration to Female Rats During Pregnancy and Lactation on Oxidative Stress and Enzymes Activities of Phosphoryltransfer Network in Cerebral Cortex and Hippocampus of the Offspring.
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- Neurochemical Research, 2013, v. 38, n. 3, p. 632, doi. 10.1007/s11064-012-0961-4
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- Article
Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.
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- 2024
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- Letter
Intramyelinic edema in maple syrup urine disease.
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- 2014
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- Case Study
Catabolism of Branched-Chain Amino Acids in Heart Failure: Insights from Genetic Models.
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- Pediatric Cardiology, 2011, v. 32, n. 3, p. 305, doi. 10.1007/s00246-010-9856-9
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- Article
Abstracts.
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- 2018
- Publication type:
- Abstract
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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- 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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- Article
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
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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- Article
BOALA URINILOR CU MIROS DE SIROP DE ARŢAR - DOUĂ PREZENTĂRI DE CAZ.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 412
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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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- Article
Caso clínico: paciente con enfermedad de Jarabe de Arce.
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- 2012
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- Publication type:
- Case Study
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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- Article
Co-infection with coxsackievirus A5 and norovirus GII.4 could have been the trigger of the first episode of severe acute encephalopathy in a six-year-old child with the intermittent form of maple syrup urine disease (MSUD).
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- 2017
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- Report
Maple Syrup Urine Disease: About a Case.
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- 2023
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- Publication type:
- Case Study
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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- Article
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
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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- 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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- Article
Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease.
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- Case Reports in Dermatological Medicine, 2017, p. 1, doi. 10.1155/2017/3905658
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- Article
Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq.
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- Oman Medical Journal, 2019, v. 34, n. 4, p. 297, doi. 10.5001/omj.2019.59
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- Article
An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.
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- Annals of Clinical Biochemistry, 2011, v. 48, n. 5, p. 468, doi. 10.1258/acb.2011.010283
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- Article
Acute axonal neuropathy in maple syrup urine disease.
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- 2001
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- journal article
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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- Article
Neuroradiological findings in maple syrup urine disease.
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- 2013
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- Publication type:
- Case Study
Maple syrup urine disease: tailoring a plan for pregnancy.
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- 2018
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- Publication type:
- 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
El papel de enfermería en la enfermedad de jarabe de arce.
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- Enfermeir@s, 2024, n. 43, p. 44
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- Article
HEREDITARY CHARACTERISTICS OF THE S339L MUTATION IN A PATIENT WITH MAPLE SYRUP URINE DISEASE IN VIETNAM.
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- Journal of Biology / TẠp chí Sinh HỌc, 2020, v. 42, n. 2, p. 101, doi. 10.15625/2615-9023/v42n2.14913
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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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- Article
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98357-2
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- Article
Maple Syrup Urine Disease (MSUD) & Other Amino Acid-Based Syndromes.
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- Dialog: Journal of the Texas Educational Diagnosticians Association, 2013, v. 42, n. 3, p. 15
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- Article
Maple Syrup Urine Disease (MSUD): A Case with Long-Term Follow-up after Liver Transplantation.
- Published in:
- 2013
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- Publication type:
- Case Study
Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.
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- Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4
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- Article