Works matching DE "MAPLE syrup urine disease"
Results: 137
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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- Article
Acute hemodialysis therapy in neonates with inborn errors of metabolism.
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- Pediatric Nephrology, 2022, v. 37, n. 11, p. 2725, doi. 10.1007/s00467-022-05507-3
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- Article
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
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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- Article
Identifying Metabolic Diseases That Precipitate Neonatal Seizures.
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- Neonatal Network, 2024, v. 43, n. 3, p. 139, doi. 10.1891/NN-2023-0048
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- Article
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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- 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
Oral health status of children and young adults with maple syrup urine disease in Turkey.
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- BMC Oral Health, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12903-020-01376-0
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- Article
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
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
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.
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- Pediatric Transplantation, 2017, v. 21, n. 5, p. n/a, doi. 10.1111/petr.12948
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- Article
Heterozygous liver transplantation for maple syrup urine disease: First European reported case.
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- Pediatric Transplantation, 2016, v. 20, n. 6, p. 846, doi. 10.1111/petr.12736
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- Article
Living donor domino liver transplantation using a maple syrup urine disease donor: A case series of three children - The first report from Japan.
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- Pediatric Transplantation, 2016, v. 20, n. 5, p. 633, doi. 10.1111/petr.12681
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- Article
Successful living donor liver transplantation for classical maple syrup urine disease.
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- Pediatric Transplantation, 2016, v. 20, n. 5, p. 707, doi. 10.1111/petr.12738
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- Article
Issue Information.
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- Pediatric Transplantation, 2016, v. 20, n. 3, p. 343, doi. 10.1111/petr.12599
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- Article
Living donor liver transplantation in maple syrup urine disease - Case series and world's youngest domino liver donor and recipient.
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- Pediatric Transplantation, 2016, v. 20, n. 3, p. 395, doi. 10.1111/petr.12666
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- Article
Liver transplantation for maple syrup urine disease: A global domino effect.
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- 2016
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- Editorial
Living related transplantation for MSUD - Caution, or a new path forward?
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- 2015
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- Publication type:
- Editorial
Successful living domino liver transplantation in a child with protein C deficiency.
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- Pediatric Transplantation, 2015, v. 19, n. 3, p. E70, doi. 10.1111/petr.12446
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- Article
Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease.
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- Pediatric Transplantation, 2015, v. 19, n. 3, p. E66, doi. 10.1111/petr.12447
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- Article
Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report.
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- Pediatric Transplantation, 2015, v. 19, n. 3, p. E62, doi. 10.1111/petr.12439
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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
The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.
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- Journal of Evaluation in Clinical Practice, 2015, v. 21, n. 6, p. 1235, doi. 10.1111/jep.12428
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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
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
Ataxia in Childhood: Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence.
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- Iranian Journal of Child Neurology, 2017, v. 11, n. 3, p. 1
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- Article
Magnetic Resonance Imaging of Brain in Evaluation of Floppy Children: A Case Series.
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- Iranian Journal of Child Neurology, 2015, v. 9, n. 4, p. 65
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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
Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
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- Laboratory Medicine, 2022, v. 53, n. 6, p. 596, doi. 10.1093/labmed/lmac034
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- 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.
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- 2017
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- Publication type:
- journal article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0159-8
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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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- 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
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
Inherited metabolic diseases: The value of newborn screening.
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- Community Practitioner, 2016, v. 89, n. 7, p. 30
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- Article
A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate.
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- Case Reports in Pediatrics, 2017, p. 1, doi. 10.1155/2017/1045031
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- Article
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.
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- 2004
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- Publication type:
- journal article
Liver transplantation in maple syrup urine disease.
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- 1999
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- Publication type:
- journal article
Metabolism of branched-chain amino acids in maple syrup urine disease.
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- European Journal of Pediatrics, 1997, v. 156, p. S62, doi. 10.1007/PL00014274
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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
Acute axonal neuropathy in maple syrup urine disease.
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- 2001
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- Publication type:
- 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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- Publication type:
- 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
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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- Article
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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- 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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- Publication type:
- Article
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
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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- Publication type:
- Article