Found: 130
Select item for more details and to access through your institution.
Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders.
- Published in:
- Nutrients, 2024, v. 16, n. 17, p. 2812, doi. 10.3390/nu16172812
- By:
- Publication type:
- Article
Branched-chain amino acid (BCAA) supplementation enhances adaptability to exercise training of mice with a muscle-specific defect in the control of BCAA catabolism.
- Published in:
- Bioscience, Biotechnology & Biochemistry, 2018, v. 82, n. 5, p. 896, doi. 10.1080/09168451.2018.1440174
- By:
- Publication type:
- Article
Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report.
- Published in:
- Child's Nervous System, 2015, v. 31, n. 9, p. 1625, doi. 10.1007/s00381-015-2756-9
- By:
- Publication type:
- Article
Erratum to: Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report.
- Published in:
- 2015
- By:
- Publication type:
- Erratum
Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 3, p. 301, doi. 10.3390/healthcare11030301
- By:
- Publication type:
- Article
A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD).
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 1, p. 178, doi. 10.3390/healthcare11020178
- By:
- Publication type:
- Article
A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene.
- Published in:
- Iranian Journal of Neonatology, 2017, v. 8, n. 3, p. 72, doi. 10.22038/ijn.2017.18533.1212
- By:
- Publication type:
- Article
Acute hemodialysis therapy in neonates with inborn errors of metabolism.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 11, p. 2725, doi. 10.1007/s00467-022-05507-3
- By:
- Publication type:
- Article
Odimet ® : A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic.
- Published in:
- Nutrients, 2024, v. 16, n. 3, p. 423, doi. 10.3390/nu16030423
- By:
- Publication type:
- Article
Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas.
- Published in:
- Nutrients, 2023, v. 15, n. 16, p. 3566, doi. 10.3390/nu15163566
- By:
- Publication type:
- Article
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
- Published in:
- Nutrients, 2021, v. 13, n. 10, p. 3523, doi. 10.3390/nu13103523
- By:
- Publication type:
- Article
One Community's Effort to Control Genetic Disease.
- Published in:
- American Journal of Public Health, 2012, v. 102, n. 7, p. 1300, doi. 10.2105/AJPH.2011.300569
- By:
- Publication type:
- Article
Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues.
- Published in:
- Journal of Genetic Counseling, 2012, v. 21, n. 5, p. 692, doi. 10.1007/s10897-012-9490-1
- By:
- Publication type:
- Article
Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics.
- Published in:
- Journal of Genetic Counseling, 2011, v. 20, n. 2, p. 192, doi. 10.1007/s10897-010-9337-6
- By:
- Publication type:
- Article
BOALA URINILOR CU MIROS DE SIROP DE ARŢAR - DOUĂ PREZENTĂRI DE CAZ.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 412
- By:
- Publication type:
- Article
Maple urine syrup disease -- two cases presentations.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 417
- By:
- Publication type:
- Article
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal 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).
- Published in:
- 2017
- By:
- Publication type:
- Report
Unusual Imaging Findings in Brain and Spinal Cord in Two Siblings With Maple Syrup Urine Disease.
- Published in:
- Journal of Neuroimaging, 2013, v. 23, n. 4, p. 540, doi. 10.1111/j.1552-6569.2012.00746.x
- By:
- Publication type:
- Article
Inborn Errors of Metabolism Presenting in Childhood.
- Published in:
- Journal of Neuroimaging, 2011, v. 21, n. 2, p. e117, doi. 10.1111/j.1552-6569.2011.00575.x
- By:
- Publication type:
- Article
Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 44, doi. 10.4274/jpr.89421
- By:
- Publication type:
- Article
The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.
- Published in:
- Journal of Evaluation in Clinical Practice, 2015, v. 21, n. 6, p. 1235, doi. 10.1111/jep.12428
- By:
- Publication type:
- Article
BRAIN DAMAGE REVERSAL ON TREATMENT IN MAPLE SYRUP URINE DISEASE: A CASE REPORT.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2018, v. 19, n. 1, p. 37, doi. 10.1016/j.ejmhg.2017.10.001
- By:
- Publication type:
- Article
Canlı donörden akçaağaç şurup idrar hastasına yapılan karaciğer nakli: İki olgu sunumu.
- Published in:
- Türk Pediatri Arşivi, 2018, v. 53, n. 2, p. 113, doi. 10.5152/TurkPediatriArs.2018.3710
- By:
- Publication type:
- Article
In vivo neuroprotective effect of L-carnitine against oxidative stress in maple syrup urine disease.
- Published in:
- Metabolic Brain Disease, 2011, v. 26, n. 1, p. 21, doi. 10.1007/s11011-011-9238-x
- By:
- Publication type:
- Article
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7490, doi. 10.3390/ijms21207490
- By:
- Publication type:
- Article
Oral health status of children and young adults with maple syrup urine disease in Turkey.
- Published in:
- BMC Oral Health, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12903-020-01376-0
- By:
- Publication type:
- Article
Classical Maple Syrup Urine Disease successfully treated with living donor liver transplantation.
- Published in:
- Annals of Medical of Research, 2021, v. 28, n. 4, p. 842, doi. 10.5455/annalsmedres.2020.04.290
- By:
- Publication type:
- Article
A NEW CASE OF BCKDHB 508 (С-Т) HOMOZYGOUS GENE MUTATION IN MAPLE SYRUP URINE DISEASE.
- Published in:
- Advances in Biology & Earth Sciences, 2017, v. 2, n. 2, p. 248
- By:
- Publication type:
- Article
A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease.
- Published in:
- Zahedan Journal of Research in Medical Sciences, 2016, v. 18, n. 10, p. 1, doi. 10.17795/zjrms-3399
- By:
- Publication type:
- Article
Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease.
- Published in:
- Case Reports in Dermatological Medicine, 2017, p. 1, doi. 10.1155/2017/3905658
- By:
- Publication type:
- Article
Identification of a Founder Mutation for Maple Syrup Urine Disease in Hutterites.
- Published in:
- South Dakota Medicine, 2014, v. 67, n. 4, p. 141
- By:
- Publication type:
- Article
Perioperative management of living donor related liver transplantation in an infant for Maple syrup urine disease.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Catabolism of Branched-Chain Amino Acids in Heart Failure: Insights from Genetic Models.
- Published in:
- Pediatric Cardiology, 2011, v. 32, n. 3, p. 305, doi. 10.1007/s00246-010-9856-9
- By:
- Publication type:
- Article
Maple Syrup Urine Disease: About a Case.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect
- Published in:
- International Journal of Developmental Neuroscience, 2013, v. 31, n. 1, p. 21, doi. 10.1016/j.ijdevneu.2012.10.109
- By:
- Publication type:
- Article
Electrochemical (Bio)Sensing of Maple Syrup Urine Disease Biomarkers Pointing to Early Diagnosis: A Review.
- Published in:
- Applied Sciences (2076-3417), 2020, v. 10, n. 20, p. 7023, doi. 10.3390/app10207023
- By:
- Publication type:
- Article
Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.
- Published in:
- Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4
- By:
- Publication type:
- Article
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 252, doi. 10.1111/cge.12751
- By:
- Publication type:
- Article
The Intra-Hippocampal Leucine Administration Impairs Memory Consolidation and LTP Generation in Rats.
- Published in:
- Cellular & Molecular Neurobiology, 2010, v. 30, n. 7, p. 1067, doi. 10.1007/s10571-010-9538-4
- By:
- Publication type:
- Article
Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
- Published in:
- Laboratory Medicine, 2022, v. 53, n. 6, p. 596, doi. 10.1093/labmed/lmac034
- By:
- Publication type:
- Article
Acute Administration of Branched-Chain Amino Acids Increases the Pro-BDNF/Total-BDNF Ratio in the Rat Brain.
- Published in:
- Neurochemical Research, 2015, v. 40, n. 5, p. 885, doi. 10.1007/s11064-015-1541-1
- By:
- Publication type:
- 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.
- Published in:
- Neurochemical Research, 2013, v. 38, n. 3, p. 632, doi. 10.1007/s11064-012-0961-4
- By:
- Publication type:
- Article
Imaging findings in maple syrup urine disease: A case report.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 103, doi. 10.4103/JPN.JPN_38_17
- By:
- Publication type:
- Article
Neuroradiological findings in maple syrup urine disease.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Treatment of maple syrup urine disease with high flow hemodialysis in a neonate.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 1, p. 107, doi. 10.24953/turkjped.2019.01.017
- By:
- Publication type:
- Article
Case report: maple syrup urine disease with a novel DBT gene mutation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Inherited metabolic diseases: The value of newborn screening.
- Published in:
- Community Practitioner, 2016, v. 89, n. 7, p. 30
- Publication type:
- Article