Works matching Maple syrup urine disease (MSUD)

Results: 231

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 5/6, p. 673, doi. 10.1515/jpem-2014-0341

By:

Miryounesi, Mohammad;
Ghafouri-Fard, Soudeh;
Goodarzi, Hamedreza;
Fardaei, Majid

Publication type:

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:

Boros, Ákos;
Pankovics, Péter;
Kőmíves, Sándor;
Liptai, Zoltán;
Dobner, Sarolta;
Ujhelyi, Enikő;
Várallyay, György;
Zsidegh, Petra;
Bolba, Nóra;
Reuter, Gábor

Publication type:

Report

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:

Banjar, Haneen Reda

Publication type:

Article

Maple Syrup Urine Disease (MSUD) & Other Amino Acid-Based Syndromes.

Published in:

Dialog: Journal of the Texas Educational Diagnosticians Association, 2013, v. 42, n. 3, p. 15

By:

Hausman, R.M.

Publication type:

Article

Maple Syrup Urine Disease (MSUD): A Case with Long-Term Follow-up after Liver Transplantation.

Published in:

2013

By:

McLaughlin, Paula M.;
Hinshaw, Jessica;
Stringer, Anthony Y.

Publication type:

Case Study

Branched-chain amino acids (BCAA) administration increases autophagy and the autophagic pathway in brain tissue of rats submitted to a Maple Syrup Urine Disease (MSUD) protocol.

Published in:

Metabolic Brain Disease, 2023, v. 38, n. 1, p. 287, doi. 10.1007/s11011-022-01109-y

By:

Fermo, Karoline Teixeira;
da Silva Lemos, Isabela;
Farias, Hemelin Resende;
Rosso, Marina Peyrot;
Effting, Pauline Souza;
Leipnitz, Guilhian;
Streck, Emílio Luiz

Publication type:

Article

Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1089, doi. 10.1002/jimd.12662

By:

Skvorak, Kristen;
Liu, Joyce;
Kruse, Nikki;
Mehmood, Roasa;
Das, Subhamoy;
Jenne, Stephan;
Chng, Chinping;
Lao, U. Loi;
Duan, Da;
Asfaha, Jonathan;
Du, Faye;
Teadt, Leann;
Sero, Antionette;
Ching, Charlene;
Riggins, James;
Pope, Lianne;
Yan, Ping;
Mashiana, Harminder;
Ismaili, Moulay Hicham Alaoui;
McCluskie, Kerryn

Publication type:

Article

Maple syrup urine disease (MSUD)-Clinical profile of 47 Filipino patients.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 281, doi. 10.1007/s10545-008-0859-0

By:

Lee, J.;
Chiong, M.;
Estrada, S.;
Cutiongco-De la Paz, E.;
Silao, C.;
Padilla, C.

Publication type:

Article

Variant maple syrup urine disease (MSUD)—The entire spectrum.

Published in:

Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 716, doi. 10.1007/s10545-006-0276-1

By:

Simon, E.;
Flaschker, N.;
Schadewaldt, P.;
Langenbeck, U.;
Wendel, U.

Publication type:

Article

A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD).

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 665, doi. 10.1007/s10545-005-0061-6

By:

Hallam, P.;
Lilburn, M.;
Lee, P.

Publication type:

Article

Initial Studies to Cure Maple Syrup Urine Disease (MSUD) in a Mouse Model.

Published in:

FASEB Journal, 2007, v. 21, n. 6, p. A1149, doi. 10.1096/fasebj.21.6.a1149-b

By:

Skvorak, Kristen Jean;
Paul, H. S.;
Zinnanti, W. J.;
Cheng, K. C.;
Ferguson, C.;
Xia, X.;
Xiao, J. L.;
Homanicsk, G. E.

Publication type:

Article

DBT Gene Mutation Among Maple Syrup Urine Disease (MSUD) In Malaysian Population.

Published in:

2021

By:

Omar, Julia;
Azraini Che Soh, Noor Azlin;
Wan Azman, Wan Norlina;
Jelani, Aniza Mohammed;
Shafii, Noorazliyana;
Rowi, Rowani Mohd;
Ngu, Lock-Hock

Publication type:

Case Study

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 110, doi. 10.1002/jmd2.12207

By:

de Lonlay, Pascale;
Posset, Roland;
Mütze, Ulrike;
Mention, Karine;
Lamireau, Delphine;
Schiff, Manuel;
Servais, Aude;
Arnoux, Jean Baptiste;
Brassier, Anaïs;
Dao, Myriam;
Douillard, Claire;
Ottolenghi, Chris;
Pontoizeau, Clément;
Miotto, Federica;
Le Mouhaër, Jeannie

Publication type:

Article

Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 9/10, p. 975, doi. 10.1515/jpem-2012-0424

By:

Ali, Ernie Zuraida;
Yunus, Zabedah Md;
Desa, Norsiah Md;
Hock, Ngu Lock

Publication type:

Article

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:

Packman, Wendy;
Mehta, Indira;
Rafie, Samantha;
Mehta, Jayanthi;
Naldi, Mariana;
Mooney, Kim

Publication type:

Article

EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.

Published in:

Neurodiagnostic Journal, 2021, v. 61, n. 3, p. 123, doi. 10.1080/21646821.2021.1935628

By:

Poothrikovil, Rajesh P.;
Al Thihli, Khalid;
Al Futaisi, Amna

Publication type:

Article

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

Published in:

2025

By:

Younes, Salma;
Elkahlout, Razan;
Kilani, Houda;
Okashah, Sarah;
Sharshani, Hussain Al;
Rezoug, Zoulikha;
Zayed, Hatem;
Al-Dewik, Nader

Publication type:

Literature Review

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5720, doi. 10.3390/ijms25115720

By:

Alotaibi, Abeer Z.;
AlMalki, Reem H.;
Al Mogren, Maha;
Sebaa, Rajaa;
Alanazi, Mohammad;
Jacob, Minnie;
Alodaib, Ahamd;
Alfares, Ahmad;
Abdel Rahman, Anas M.

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:

Marginean, Cristina Oana;
Duicu, Carmen;
Bănescu, Claudia;
Pitea, Ana Maria

Publication type:

Article

Induction of oxidative stress in rat brain by the metabolites accumulating in maple syrup urine disease

Published in:

International Journal of Developmental Neuroscience, 2003, v. 21, n. 6, p. 327, doi. 10.1016/S0736-5748(03)00074-1

By:

Bridi, Raquel;
Araldi, Janaína;
Sgarbi, Miriam B.;
Testa, Carla G.;
Durigon, Karina;
Wajner, Moacir;
Dutra-Filho, Carlos Severo

Publication type:

Article

Differential response to renal replacement therapy in neonatal‐onset inborn errors of metabolism.

Published in:

Nephrology, 2018, v. 23, n. 10, p. 957, doi. 10.1111/nep.13409

By:

Porta, Francesco;
Pieretti, Silvia;
Busso, Marta;
Cocchi, Enrico;
Pagliardini, Veronica;
Spada, Marco;
Peruzzi, Licia;
Bonaudo, Roberto;
Conio, Alessandra

Publication type:

Article

Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 3, p. 765, doi. 10.1007/s11011-017-9959-6

By:

Su, Ling;
Lu, Zhikun;
Li, Fatao;
Shao, Yongxian;
Sheng, Huiying;
Cai, Yanna;
Liu, Li

Publication type:

Article

Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-73

By:

Vogel, Kara R.;
Arning, Erland;
Wasek, Brandi L.;
McPherson, Sterling;
Bottiglieri, Teodoro;
Gibson, K. Michael

Publication type:

Article

Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report.

Published in:

2024

By:

Baidya, Sujata;
Thapa, June;
Kadel, Anuradha;
Kharal, Nikita;
Lamichhane, Machhindra;
Dubey, Raju Kumar;
Raut, Mithileshwer;
Bhattarai, Aseem;
Tuladhar, Eans Tara;
Sharma, Vijay Kumar;
Niraula, Apeksha

Publication type:

Case Study

Abnormalities of muscle fibers in maple syrup urine disease.

Published in:

Acta Neuropathologica, 1984, v. 63, n. 3, p. 249, doi. 10.1007/BF00685251

By:

Ferrière, G.;
Castro, M.;
Rodriguez, J.

Publication type:

Article

石家庄地区枫糖尿病患儿串联质谱筛查及BCKDHA、BCKDHB、DBT基因突变分析.

Published in:

Journal of International Reproductive Health/Family Planning, 2023, v. 42, n. 3, p. 203, doi. 10.12280/gjszjk.20230033

By:

贾立云;
弓苗;
杨会欣;
王熙;
封纪珍

Publication type:

Article

BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.

Published in:

Science Translational Medicine, 2025, v. 17, n. 787, p. 1, doi. 10.1126/scitranslmed.ads0539

By:

Wang, Jiaming;
Poskitt, Laura E.;
Gallagher, Jillian;
Puffenberger, Erik G.;
Wynn, R. Max;
Shishodia, Gauri;
Chuang, David T.;
Beever, Jonathan;
Hardin, Donald L.;
Brigatti, Karlla W.;
Baker, William C.;
Gately, Rachael;
Bertrand, Stephanie;
Rodrigues, Ashlin;
Benatti, Hector R;
Taghian, Toloo;
Hall, Erin;
Prestigiacomo, Rachel;
Liang, Jialing;
Chen, Gong

Publication type:

Article

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w

By:

Pontoizeau, Clément;
Simon-Sola, Marcelo;
Gaborit, Clovis;
Nguyen, Vincent;
Rotaru, Irina;
Tual, Nolan;
Colella, Pasqualina;
Girard, Muriel;
Biferi, Maria-Grazia;
Arnoux, Jean-Baptiste;
Rötig, Agnès;
Ottolenghi, Chris;
de Lonlay, Pascale;
Mingozzi, Federico;
Cavazzana, Marina;
Schiff, Manuel

Publication type:

Article

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w

By:

Pontoizeau, Clément;
Simon-Sola, Marcelo;
Gaborit, Clovis;
Nguyen, Vincent;
Rotaru, Irina;
Tual, Nolan;
Colella, Pasqualina;
Girard, Muriel;
Biferi, Maria-Grazia;
Arnoux, Jean-Baptiste;
Rötig, Agnès;
Ottolenghi, Chris;
de Lonlay, Pascale;
Mingozzi, Federico;
Cavazzana, Marina;
Schiff, Manuel

Publication type:

Article

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w

By:

Pontoizeau, Clément;
Simon-Sola, Marcelo;
Gaborit, Clovis;
Nguyen, Vincent;
Rotaru, Irina;
Tual, Nolan;
Colella, Pasqualina;
Girard, Muriel;
Biferi, Maria-Grazia;
Arnoux, Jean-Baptiste;
Rötig, Agnès;
Ottolenghi, Chris;
de Lonlay, Pascale;
Mingozzi, Federico;
Cavazzana, Marina;
Schiff, Manuel

Publication type:

Article

Phosphatase activity-based PPM1K: a key player in the regulation of mitochondrial function and its multifaceted impact in diseases.

Published in:

Molecular & Cellular Biochemistry, 2025, v. 480, n. 5, p. 2815, doi. 10.1007/s11010-024-05188-6

By:

Mao, Yuanling;
Feng, Jing

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:

Aw-Zoretic, Jessie;
Wadhwani, Nitin;
Rishi, Lulla;
Ryan, Maura

Publication type:

Article

Evaluation of the mechanisms involved in leucine-induced oxidative damage in cerebral cortex of young rats.

Published in:

Free Radical Research, 2005, v. 39, n. 1, p. 71, doi. 10.1080/10715760400022350

By:

Bridi, Raquel;
Latini, Alexandra;
Braum, César A.;
Zorzi, Giovanni K.;
Wajner, Moacir;
Lissi, Eduardo;
Dutra-Filho, Carlos Severo

Publication type:

Article

The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1790

By:

Mohamed, Montaser M.;
Bakheet, Mohamed A.;
Magdy, Rofaida M.;
El‐Abd, Heba S.;
Alam‐Eldeen, Mohamad Hasan;
Abo‐Haded, Hany M.

Publication type:

Article

Molecular basis of various forms of maple syrup urine disease in Chilean patients.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1616

By:

Campanholi, Diana Ruffato Resende;
Margutti, Ana Vitoria Barban;
Silva, Wilson A.;
Garcia, Daniel F.;
Molfetta, Greice A.;
Marques, Adriana A.;
Schwartz, Ida Vanessa Döederlein;
Cornejo, V.;
Hamilton, Valerie;
Castro, Gabriela;
Sperb‐Ludwig, Fernanda;
Borges, Ester S.;
Camelo, José S.

Publication type:

Article

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 383, doi. 10.1002/mgg3.88

By:

Fernández‐Guerra, Paula;
Birkler, Rune I. D.;
Merinero, Begoña;
Ugarte, Magdalena;
Gregersen, Niels;
Rodríguez‐Pombo, Pilar;
Bross, Peter;
Palmfeldt, Johan

Publication type:

Article

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.

Published in:

2020

By:

Yıldız, Yılmaz;
Akcan Yıldız, Leman;
Dursun, Ali;
Tokatlı, Ayşegül;
Coşkun, Turgay;
Tekşam, Özlem;
Sivri, Hatice Serap

Publication type:

journal article

Acrodermatitis Dysmetabolica: A Masquerade.

Published in:

2024

By:

Jarang, Tulasi;
Katakam, Bhumesh Kumar;
Kusuma, Pavani;
Mogili, Prashanthi

Publication type:

Case Study

Safety of COVID‐19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation.

Published in:

Journal of Paediatrics & Child Health, 2023, v. 59, n. 1, p. 41, doi. 10.1111/jpc.16231

By:

Zubarioglu, Tanyel;
Oral‐Cebeci, Sinem;
Hopurcuoglu, Duhan;
Uygur, Esma;
Ahmadzada, Saffa;
Uzunyayla‐Inci, Gözde;
Oge‐Enver, Ece;
Akca, Sedanur;
Aghalarov, Mirsaid;
Yilmaz, Gizem;
Kiykim, Ertugrul;
Aktuglu‐Zeybek, Cigdem

Publication type:

Article

Utility of peritoneal dialysis in neonates affected by inborn errors of metabolism.

Published in:

Journal of Paediatrics & Child Health, 2014, v. 50, n. 7, p. 531, doi. 10.1111/jpc.12510

By:

Bilgin, Leyla;
Unal, Sevim;
Gunduz, Mehmet;
Uncu, Nermin;
Tiryaki, Tugrul

Publication type:

Article

Pseudo-maple syrup urine disease due to maternal prenatal ingestion of fenugreek.

Published in:

2001

By:

Korman, S;
Korman, SH;
Cohen, E;
Preminger, A;
Korman, S H

Publication type:

journal article

Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene.

Published in:

Annals of Human Genetics, 2009, v. 73, n. 3, p. 298, doi. 10.1111/j.1469-1809.2009.00518.x

By:

Quental, Sofia;
Gusmão, Alfredo;
Rodríguez-Pombo, Pilar;
Ugarte, Magdalena;
Vilarinho, Laura;
Amorim, António;
Prata, Maria J.

Publication type:

Article

Typical Neuroradiological Diagnosis of Maple Syrup Urine Disease as a Precursor to Clinical Diagnosis: A Case Report.

Published in:

Neuroradiology Journal, 2009, v. 22, n. 5, p. 564, doi. 10.1177/197140090902200509

By:

Srinivasan, K. G.;
Ramprabananth, S.;
Ushanandhini, K. P.;
Srividya, S.

Publication type:

Article

Clinical utility of low branched-chain amino acid modular diets in patients with isovaleric aciduria and maple syrup urine disease.

Published in:

Malaysian Journal of Nutrition, 2021, v. 27, n. 2, p. 349, doi. 10.31246/mjn-2020-0071

By:

Suthida Chatvuttinun;
Duangrurdee Wattanasirichaigoon;
Visith Chavasit;
Oraporn Dumrongwongsiri;
Thipwimol Tim-Aroon;
Umaporn Suthutvoravut;
Nalinee Chongviriyaphan

Publication type:

Article

Acrodermatitis dysmetabolica: lessons from two pediatric cases.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 3, p. 299, doi. 10.1515/jpem-2024-0542

By:

Kahraman, Ayça Burcu;
Cosar, Meryem Sıla;
Dogan, Ekrem Eren;
Ünlü, Yaşar;
Ugur, Cuneyt;
Bagcı, Zafer

Publication type:

Article

Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 1, p. 65, doi. 10.1515/jpem-2024-0409

By:

Magdy, Rofaida M.;
Dolins, Karen Reznik;
Nagdy, Hanan;
Ali, Tasneem Mohammed;
Elabd, Heba S.;
Hassan, Mohammad Ahmad

Publication type:

Article

Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 2, p. 167, doi. 10.1515/jpem-2022-0230

By:

Kozanoğlu, Tuğba;
Balcı, Mehmet Cihan;
Karaca, Meryem;
Gökçay, Gülden Fatma

Publication type:

Article

Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 11, p. 1345, doi. 10.1515/jpem-2021-0780

By:

Unsal, Yagmur;
Yurdakok, Murat;
Yigit, Sule;
Celik, Hasan Tolga;
Dursun, Ali;
Sivri, Hatice Serap;
Tokatli, Aysegul;
Coskun, Turgay

Publication type:

Article

Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1147, doi. 10.1515/jpem-2020-0746

By:

Jiang, Hong‐Hua;
Guo, Yan;
Shen, Xian;
Wang, Ying;
Dai, Ting-Ting;
Rong, Hui;
Cheng, Rui;
Zhao, Fei

Publication type:

Article

Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 1, p. 121, doi. 10.1515/jpem-2020-0356

By:

Zubarioglu, Tanyel;
Dede, Elif;
Cigdem, Humeyra;
Kiykim, Ertugrul;
Cansever, Mehmet S.;
Aktuglu-Zeybek, Cigdem

Publication type:

Article