Maple syrup urine disease: mechanisms and management

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Items 101–200 of 280

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2. Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
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5. The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
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6. Maple syrup urine disease decompensation misdiagnosed as a psychotic event
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7. Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease
   Jinping Zhang, Zhi‐Jun Zhu, Li‐Ying Sun, Lin Wei, Wei Qu, Zhi‐Gui Zeng, Haiming Zhang, Ying Liu · 2023 · Annals of Transplantation
8. Production of low‐protein cocoa powder with enzyme‐assisted hydrolysis
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9. Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China
   X Yang, Rulai Yang, Tao Zhang, Dongmei Tan, R Pan, Zhihao Chen, Dehua Wu, Chi Chen, Yanping Xu, Linlin Zhang et al. · 2024 · QJM
10. Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease
    Juan Ramón Tejedor, Alejandro Soriano‐Sexto, Leonardo L Beccari, Natalia Castejón‐Fernández, Patricia Correcher Medina, Lidia Sainz‐Ledo, Juan José Alba‐Linares, Rocío G. Urdinguio, Magdalena Ugarte, Agustín F. Fernández et al. · 2024 · Journal of Inherited Metabolic Disease
11. Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report
    Rohini Patil, Giridhar Sethuraman, L. Umadevi, M Rathinasamy, Antony J · 2020 · International Journal of Contemporary Pediatrics
12. International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country
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14. Emergency management of critically ill adult patients with inherited metabolic disorders
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15. Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry
    Charles John Billington, Kimberly A. Chapman, Eyby L. Leon, Beatrix Meltzer, Seth Berger, Matthew Wayne Olson, Robert A. Figler, Steve A. Hoang, Wanxing Cui, Brian R. Wamhoff et al. · 2022 · American Journal of Medical Genetics Part A
16. Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
    Paula Sánchez‐Pintos, Silvia María Meavilla, María Goretti López-Ramos, Àngels García‐Cazorla, María Luz Couce · 2022 · Frontiers in Pediatrics
17. The Utility of Metabolomics in Spinal Cord Injury: Opportunities for Biomarker Discovery and Neuroprotection
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18. Exploring cortical proteins underlying the relation of neuroticism to cognitive resilience
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19. 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
    Jean‐Meidi Alili, Marie‐Pierre Berleur, Marie‐Caroline Husson, Karine Mention, Manuel Schiff, Jean‐Baptiste Arnoux, Anaïs Brassier, Anne‐Sophie Guémann, Coraline Grisel, Sandrine Dubois et al. · 2022 · Orphanet Journal of Rare Diseases
20. A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD)
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21. Oral enzyme therapy for maple syrup urine disease ( MSUD ) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates
    Kristen J. Skvorak, Joyce Liu, Nikki Kruse, Roasa Mehmood, Subhamoy Das, Stephan Jenne, Chinping Chng, U Loi Lao, Da Duan, Jonathan B Asfaha et al. · 2023 · Journal of Inherited Metabolic Disease
22. The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review
    Yazan Mansour Hassona, Dua’a Alqaisi, Yara Flaifl, Asma Alkilani · 2024 · BMC Oral Health
23. Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease
    Zeinab S. Abdelkhalek, Shadia Hussein, Iman Gamal El Din Mahmoud, Areef Ramadan, Mona Monir Kamel, Marian Yousry Fahmy Girgis, Mohamed A. Elmonem · 2024 · Scientific Reports
24. Pathophysiology and Management of Disorders of Carbohydrate Metabolism and Neonatal Diabetes
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25. Clinical Profiles and Outcomes of the Most Common Inherited Metabolic Diseases in the Philippines: A Review of the National Institutes of Health – Institute of Human Genetics Metabolic Registry
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26. Maple syrup urine disease: magnetic resonance imaging findings in three patients
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27. Advanced Electrochemical Biosensors
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28. Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient
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29. Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures
    K. K. Harshyenee, Pranav Ajmera, Aastha Agarwal, Ajay Dahiya, Sai Sabari Vinay Kumar Parripati · 2023 · Cureus
30. Teaching NeuroImages: When MRI is a clue in episodic ataxia
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31. Current approaches in CRISPR-Cas system for metabolic disorder
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32. Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression
    Abeer Z. Alotaibi, Reem H. AlMalki, Rajaa Sebaa, Maha Al Mogren, Mohammad A. Alanazi, Khalid M. Sumaily, Ahmad N. Alodaib, Ahmed H. Mujamammi, Minnie Jacob, Essa Mohammed Sabi et al. · 2025 · Metabolites
33. Inherited metabolic epilepsies–established diseases, new approaches
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34. Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt
    Marwa A. Dahpy, Tahia Hashim Saleem, Osama Mahmoud El-Asheer, Ahmed Abd ELrasoul, Amir M. Abo Elgeit · 2020 · Journal of Pediatric Genetics
35. Maple Syrup Urine Disease
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36. Nutrition Management of Maple Syrup Urine Disease
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37. Diagnosis of an intermediate case of maple syrup urine disease: A case report
    Yunting Lin, Yan-Na Cai, Tzer Hwu Ting, Li Liu, Chunhua Zeng, Ling Su, Min-Zhi Peng, Xiuzhen Li · 2023 · World Journal of Clinical Cases
38. Organic Acidemias: Clinical Presentation in Neonates
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39. Elevated Plasma Tryptophan in Patients with Anorexia Nervosa Compared with Hypotrophic Controls
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40. Advancing the Biochemical Understanding of Maple Syrup Urine Disease and the Impact of Liver Transplantation: A Pilot Study
    Sotirios P. Fortis, Abby Grier, Julie A. Reisz, Monika Dzieciątkowska, Francesca Isabelle Cendali, Vienna Kauffman, D. Holmes Morton, Angelo D’Alessandro · 2025 · Journal of Proteome Research
41. Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
    Aileen Kenneson, Lauren Youngborg, Rani H. Singh · 2020 · Molecular Genetics and Metabolism Reports
42. Pregnancy in an adolescent with maple syrup urine disease: Case report
    Michelle E. Abadingo, Mary Ann R. Abacan, Jeanne Ruth U. Basas, Carmencita David Padilla · 2021 · Molecular Genetics and Metabolism Reports
43. The Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders
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44. Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease
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45. Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study
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46. Caprylic Acid Restores Branched-Chain Amino Acid Metabolism in a Mouse Cachexia Model
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47. The “Aminometer” – a finger-sized prototype for total L-amino acid measurements from human serum
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48. From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care
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49. The potential to breed a low‐protein maize for protein‐restricted diets
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50. Chemistry and mechanism of the diseases caused by digestive disorders
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51. Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease
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52. Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?
    Helena Moreira Silva, Sandra Roberta G. Ferreira, Manuela Almeida, Isabel Gonçalves, Maria Augusta Cipriano, Jose Ramon Vizcaino, Ermelinda Santos Silva, Esmeralda Martins · 2022 · Frontiers in Pediatrics
53. Metabolomics used in clinical diagnosis related to newborn screening
    Mahbuba Rahman, Mamatha Ramaswamy · 2023 · Elsevier eBooks
54. Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis
    Pedro Miragaia, Ana Grangeia, Esmeralda Rodrigues, Raquel Sousa, Augusto Ribeiro · 2024 · Cureus
55. Acrodermatitis dismetabólica
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56. Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management
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57. Temporal and interanimal variation in bloodspot acylcarnitine and amino acid profiles in relation to conventional metabolites and hormones in Holstein dairy cows
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58. Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease
    Francesco Porta, Marta Busso, Sara Giorda, Marco Spada · 2018 · Journal of Pediatric Endocrinology and Metabolism
59. Effect of nutritional intervention on nutritional status among children with disorders of amino acid and nitrogen metabolism (AANMDs): A scoping review
    Jing Ying Lim, Noh Amit, Nazlena Mohamad Ali, Huey Yin Leong, Maslina Mohamad, Roslee Rajikan · 2021 · Intractable & Rare Diseases Research
60. Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA : A case report
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61. [Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report]
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62. Amino Acids | Branched-Chain Amino Metabolism
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63. Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing
    Rafael Hencke Tresbach, Fernanda Sperb‐Ludwig, Rodrigo Ligabue‐Braun, Fernanda Hendges de Bitencourt, Tássia Tonon, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Maria Efigênia de Queiroz Leite, Tatiana Amorim, Gilda Porta et al. · 2024 · Molecular Genetics and Metabolism
64. Branched-chain amino acid supplementation and voluntary running have distinct effects on the serum metabolome of rats with high or low intrinsic aerobic capacity
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66. The branched‐chain amino acid‐related isoleucic acid: recent research advances
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67. Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations
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68. Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes
    Raashda Ainuddin Sulaiman, Ruqaiah Altassan, Randa Al‐Shammari, Moeenaldeen Al‐Sayed, Aamir N. Sheikh, Manal Nicolas‐Jilwan, Mohamed Al‐Owain, Zuhair N. Al‐Hassnan · 2025 · Orphanet Journal of Rare Diseases
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70. Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease
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71. Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice
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73. Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics
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74. Neuroanatomy, Dentate Nucleus
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75. Akçaağaç Şurubu İdrar Hastalığı Ve Tıbbi Beslenme Tedavisi
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76. Maple syrup urine disease associated with nephrotic syndrome in a Filipino child
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77. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
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78. Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report
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79. Akçaağaç Şurubu İdrar Hastalığında Beslenme Tedavisinin Durumu Üzerine Bir Anlatı İncelemesi
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80. Changes in branched‐chain amino acids in an infant with maple syrup urine disease during perioperative pediatric liver transplant: A case report
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81. Congenital diseases with multi-organ expression as an indication for liver transplantation in children during the first years of life: Integrative approach to improve the outcomes
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82. Perioperative management in pediatric domino liver transplantation for metabolic disorders: A narrative review
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83. A case of concurrent malnutrition in maple syrup urine disease: challenges and solutions in Indonesia
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84. Protein Metabolism and Its Profiling for the Diagnosis of Metabolic Disorders
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85. Nutrient management in the intrapartum period in maternal maple syrup urine disease
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86. A Case of Maple Syrup Urine Disease Diagnosed in Adulthood
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91. Spectrum of Genetic Variants Associated with Maple Syrup Urine Disease in the Middle East and North Africa (MENA) Region: A Systematic Review
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93. Disorders of Metabolism of Amino Acids and Related Compounds
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94. Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
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95. Hereditary characteristics of the S339L mutation in a patient with maple syrup urine disease in Vietnam
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97. Thrombospondin domain1-related congenital chylothorax in an infant with maple syrup urine disease: a challenging case
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99. DBT Gene Mutation Among Maple Syrup Urine Disease (MSUD) In Malaysian Population
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100. Human Nervous System Disorders
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