Works matching Maple syrup urine disease

Results: 506

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.

Published in:

Clinical Case Reports, 2018, v. 6, n. 10, p. 1989, doi. 10.1002/ccr3.1774

By:

Li, Wenjie;
Meng, Xianze;
Wang, Weiqing;
Lv, Jinfeng;
Sun, Yingmei;
Lv, Yanan;
Wang, Caijuan;
Wang, Hongqin;
Wang, Mei;
Song, Dongpo

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

ENFERMEDAD DE LA ORINA CON OLOR A JARABE DE ARCE: REPORTE DE DOS CASOS.

Published in:

Peruvian Journal of Maternal Perinatal Research / Revista Peruana de Investigación Materno Perinatal, 2024, v. 13, n. 2, p. 39, doi. 10.33421/inmp.2024391

By:

Mendoza Jamanca, Wendy Lizeth;
Rosa Dávila-Aliaga, Carmen;
Medina-Alva, Pilar;
Alvarado Merino, Rosa

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:

Baştürk, Ahmet;
Keçeli, Meryem;
Erbiş, Halil;
Soyucen, Erdoğan;
Aliosmanoğlu, İbrahim;
Dinçkan, Ayhan;
Yılmaz, Aygen;
Artan, Reha

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:

Mirzaee, Alieh;
Pishva, Narges;
Karamizadeh, Zohreh;
Kohlhase, Jurgen;
Purarian, Shahnaz;
Hemmati, Fariba;
Razavi, Mostajab;
Nasirabadi, Shiva

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

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:

Kotby, Alyaa A.;
Al-Fahham, Marwa M.;
Elabd, Heba Salah A.;
Zaki, Osama K.

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:

Xu, Jing;
Jakher, Youseff;
Ahrens-Nicklas, Rebecca C.

Publication type:

Article

Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease.

Published in:

Blood Purification, 2016, v. 42, n. 1, p. 27, doi. 10.1159/000443783

By:

Demirkol, Demet;
Şık, Güntülü;
Topal, Nilüfer;
Çıtak, agop;
Zeybek, Çigdem;
Tüten, abdülhamit;
Bilge, Ilmay

Publication type:

Article

Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series.

Published in:

Pediatric Transplantation, 2011, v. 15, n. 1, p. 58, doi. 10.1111/j.1399-3046.2010.01411.x

By:

Shellmer, D. A.;
DeVito Dabbs, A.;
Dew, M. A.;
Noll, R. B.;
Feldman, H.;
Strauss, K. A.;
Morton, D. H.;
Vockley, J.;
Mazariegos, G. V.

Publication type:

Article

Maple syrup urine disease: mechanisms and management.

Published in:

Application of Clinical Genetics, 2017, v. 10, p. 57, doi. 10.2147/tacg.s125962

By:

Blackburn, Patrick R.;
Gass, Jennifer M.;
Vairo, Filippo Pinto e.;
Farnham, Kristen M.;
Atwal, Herjot K.;
Macklin, Sarah;
Klee, Eric W.;
Atwal, Paldeep S.

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

BRAIN DAMAGE REVERSAL ON TREATMENT IN MAPLE SYRUP URINE DISEASE: A CASE REPORT.

Published in:

2018

By:

Shambhavi;
Sitaraman, Sadasivan;
Chaudhary, Anita;
Kushwaha, Supriya

Publication type:

Case Study

Acute axonal neuropathy in maple syrup urine disease.

Published in:

2001

By:

Kleopa, Kleopas A.;
Raizen, David M.;
Friedrich, Christopher A.;
Brown, Mark J.;
Bird, Shawn J.;
Kleopa, K A;
Raizen, D M;
Friedrich, C A;
Brown, M J;
Bird, S J

Publication type:

journal article

Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease.

Published in:

Dermatology Online Journal, 2019, v. 25, n. 9, p. 1, doi. 10.5070/d3259045509

By:

Campuzano-García, Andrés Eduardo;
Castanedo-Cázares, Juan Pablo

Publication type:

Article

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:

Alrige, Mayda;
Banjar, Haneen;
Shuaib, Taghreed;
Ahmed, Amal;
Gharbawi, Raghad

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:

Banjar, Haneen Reda

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

CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT.

Published in:

Khyber Medical University Journal, 2018, v. 10, n. 1, p. 44, doi. 10.35845/kmuj.2018.18005

By:

Idrees, Zara;
Khushdil, Arshad;
Zakir, Ujala;
Ahmed, Zeeshan

Publication type:

Article

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.

Published in:

Nutrients, 2024, v. 16, n. 18, p. 3145, doi. 10.3390/nu16183145

By:

Pretese, Roberta;
Bonfanti, Cristina;
Faraguna, Martha Caterina;
Fantasia, Marialetizia;
Crescitelli, Viola;
Barzaghi, Silvia;
Botti, Mara;
Mezzanotti, Giulia;
Gasperini, Serena

Publication type:

Article

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 302, doi. 10.4274/jcrpe.galenos.2021.2021.0173

By:

Al Shidhani, Azza;
Al Hinai, Abdulhamid;
Al Thihli, Khalid;
Al Mandhari, Hilal;
Al Yaarubi, Saif;
Ullah, Irfan;
Al-Hashmi, Nadia;
Al Murshedi, Fathiya

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:

Dogan, Gulec Mert;
Dogan, Sait Murat;
Okut, Gokalp;
Sigirci, Ahmet;
Yilmaz, Sezai

Publication type:

Article

The use of botulinum toxin and epidural analgesia for the treatment of spasticity and pain in a patient with maple syrup urine disease.

Published in:

2012

By:

Kaki, Abdullah M.;
Arab, Abeer A.

Publication type:

Case Study

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:

Kathait, Anjaneya;
Puac, Paulo;
Castillo, Mauricio

Publication type:

Article

Neuroradiological findings in maple syrup urine disease.

Published in:

2013

By:

Indiran, Venkatraman;
Gunaseelan, R. Emmanuel

Publication type:

Case Study

Case report: maple syrup urine disease with a novel DBT gene mutation.

Published in:

2019

By:

Feng, Wei;
Jia, Jinfu;
Guan, Heyang;
Tian, Qing

Publication type:

journal article

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 70, doi. 10.3390/ijns10040070

By:

Martens, Rosalie C.;
Boelen, Anita;
van der Kemp, Michèle H.;
Bosch, Annet M.;
Berghout, Eveline M.;
Weijman, Gert;
Zwaveling-Soonawala, Nitash;
Verschoof-Puite, Rendelien K.;
de Jonge, Robert;
Hannema, Sabine E.;
Bosmans, Judith E.;
Heijboer, Annemieke C.

Publication type:

Article

Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 6, p. 4872, doi. 10.3892/mmr.2019.10133

By:

Liu, Yi-Dan;
Chu, Xu;
Liu, Rui-Hua;
Sun, Ying;
Kong, Qing-Xia;
Li, Qiu-Bo

Publication type:

Article

Administration of branched-chain amino acids alters epigenetic regulatory enzymes in an animal model of Maple Syrup Urine Disease.

Published in:

Metabolic Brain Disease, 2021, v. 36, n. 2, p. 247, doi. 10.1007/s11011-020-00631-1

By:

Streck, Emilio L.;
Bussular, Felipe P.;
Wessler, Leticia B.;
Duarte, Mariane B.;
Rezende, Victoria L.;
Rodrigues, Matheus S.;
Torres, Carolina A.;
Lemos, Isabela S.;
Candiotto, Gabriela;
Gava, Fernanda F.;
de Oliveira, Jade;
Valvassori, Samira S.

Publication type:

Article

Melatonin ameliorates oxidative stress and DNA damage of rats subjected to a chemically induced chronic model of Maple Syrup Urine Disease.

Published in:

Metabolic Brain Disease, 2020, v. 35, n. 6, p. 905, doi. 10.1007/s11011-020-00572-9

By:

Wessler, Leticia B.;
Ise, Kely;
Lemos, Isabela C.;
Rezende, Victoria L.;
Duarte, Mariane B.;
Damiani, Adriani P.;
de Oliveira, Jade;
de Andrade, Vanessa M.;
Streck, Emilio L.

Publication type:

Article

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 3, p. 741, doi. 10.1007/s11011-017-0168-0

By:

Li, Xiaomei;
Yang, Yali;
Gao, Qing;
Gao, Min;
Lv, Yvqiang;
Dong, Rui;
Liu, Yi;
Zhang, Kaihui;
Gai, Zhongtao

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

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:

Mescka, Caroline;
Moraes, Tarsila;
Rosa, Andrea;
Mazzola, Priscila;
Piccoli, Bruna;
Jacques, Carlos;
Dalazen, Giovana;
Coelho, Juliana;
Cortes, Marcelo;
Terra, Melaine;
Vargas, Carmen Regla;
Dutra-Filho, Carlos S.

Publication type:

Article

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.

Published in:

2020

By:

Margutti, Ana Vitoria Barban;
Silva, Wilson Araújo;
Garcia, Daniel Fantozzi;
de Molfetta, Greice Andreotti;
Marques, Adriana Aparecida;
Amorim, Tatiana;
Prazeres, Vânia Mesquita Gadelha;
Boy da Silva, Raquel Tavares;
Miura, Irene Kazue;
Seda Neto, João;
Santos, Emerson de Santana;
Santos, Mara Lúcia Schmitz Ferreira;
Lourenço, Charles Marques;
Tonon, Tássia;
Sperb-Ludwig, Fernanda;
de Souza, Carolina Fischinger Moura;
Schwartz, Ida Vanessa Döederlein;
Camelo, José Simon;
Silva, Wilson Araújo Jr;
Camelo, José Simon Jr

Publication type:

journal article

Successful pregnancy in maple syrup urine disease: a case report and review of the literature.

Published in:

2018

By:

Grünert, Sarah Catharina;
Rosenbaum-Fabian, Stefanie;
Schumann, Anke;
Schwab, Karl Otfried;
Mingirulli, Nadja;
Spiekerkoetter, Ute

Publication type:

journal article

Electrochemical On‐site Amino Acids Detection of Maple Syrup Urine Disease Using Vertically Aligned Nickel Nanowires.

Published in:

Electroanalysis, 2018, v. 30, n. 7, p. 1505, doi. 10.1002/elan.201800103

By:

García‐carmona, Laura;
González, María Cristina;
Escarpa, Alberto

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

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:

Safdarian, Esmat;
Galehdari, Hamid;
Jafarian, Vahab;
Shafee, Mohammad;
Shariati, Gholamreza;
Hamid, Mohammad;
Saberi, Alihossein

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

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.

Published in:

2022

By:

Alili, Jean-Meidi;
Berleur, Marie-Pierre;
Husson, Marie-Caroline;
Mention, Karine;
Schiff, Manuel;
Arnoux, Jean-Baptiste;
Brassier, Anaïs;
Guemman, Anne-Sophie;
Grisel, Coraline;
Dubois, Sandrine;
Abi-Wardé, Marie-Thérèse;
Broissand, Christine;
Servais, Aude;
Dao, Myriam;
de Lonlay, Pascale

Publication type:

journal article

Direct analysis of dried blood spots by in-line desorption combined with high-resolution chromatography and mass spectrometry for quantification of maple syrup urine disease biomarkers leucine and isoleucine.

Published in:

Analytical & Bioanalytical Chemistry, 2011, v. 400, n. 1, p. 237, doi. 10.1007/s00216-011-4740-x

By:

Miller IV, John H.;
Poston, Philip A.;
Karnes, H. Thomas

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:

Gündüz, Mehmet;
Koç, Nevra;
Ünal, Özlem;
Uçaktürk, Seyit Ahmet

Publication type:

Article

A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00145

By:

Liu, Gang;
Ma, Dingyuan;
Hu, Ping;
Wang, Wen;
Luo, Chunyu;
Wang, Yan;
Sun, Yun;
Zhang, Jingjing;
Jiang, Tao;
Xu, Zhengfeng

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

Urgencias metabólicas y genéticas en la Unidad de Recién Nacidos: enfermedad de la orina con olor a jarabe de arce.

Published in:

Nutrición Hospitalaria, 2015, v. 32, n. 1, p. 420, doi. 10.3305/nh.2015.32.1.8996

By:

Páez Rojas, Paola Liliana;
Suárez Obando, Fernando

Publication type:

Article

Maple syrup urine disease: tailoring a plan for pregnancy.

Published in:

2018

By:

Brown, James;
Tchan, Michel;
Nayyar, Roshini

Publication type:

journal article

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:

Mescka, Caroline Paula;
Wayhs, Carlos Alberto Yasin;
Vanzin, Camila Simioni;
Biancini, Giovana Brondani;
Guerreiro, Gilian;
Manfredini, Vanusa;
Souza, Carolina;
Wajner, Moacir;
Dutra-filho, Carlos Severo;
Vargas, Carmen Regla

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

Neonatal case of classic maple syrup urine disease: Usefulness of <sup>1</sup>H-MRS in early diagnosis.

Published in:

Pediatrics International, 2014, v. 56, n. 1, p. 112, doi. 10.1111/ped.12211

By:

Sato, Takeshi;
Muroya, Koji;
Hanakawa, Junko;
Asakura, Yumi;
Aida, Noriko;
Tomiyasu, Moyoko;
Tajima, Go;
Hasegawa, Tomonobu;
Adachi, Masanori

Publication type:

Article