Works matching Maple syrup urine disease

Results: 483

杂合子亲属活体肝移植治疗儿童BCKDHB基因新复合突变枫糖尿病1例并文献复习.

Published in:

Organ Transplantation / Qi Guan Yi Zhi, 2021, v. 12, n. 5, p. 588, doi. 10.3969/j.issn.1674-7445.2021.05.013

By:

吴越;
顾广祥;
夏强

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

一例夫妻均为枫糖尿病基因携带者的多次妊娠结局报道及文献复习.

Published in:

Journal of International Reproductive Health/Family Planning, 2019, v. 38, n. 4, p. 289

By:

陈娟;
张岩;
董渠龙;
史海霞

Publication type:

Article

Necrosis en espejo de ganglios basales en la enfermedad de la orina con olor a jarabe de arce. Presentación de un caso.

Published in:

MediSur, 2022, v. 20, n. 4, p. 754

By:

Jiménez González, Yurisandra;
Esquivel Sosa, Leidelén;
Fleites García, Yagima;
León de Armas, Yandy

Publication type:

Article

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

Intermediate Maple Syrup Urine Disease: Neuroimaging Observations in 3 Patients From South India.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 7, p. 911, doi. 10.1177/0883073807304003

By:

Bindu, P. S.;
Shehanaz, K. E.;
Christopher, Rita;
Pal, Pramod K.;
Ravishankar, S.

Publication type:

Article

Functional connectivity changes in mouse models of maple syrup urine disease.

Published in:

Cerebral Cortex, 2025, v. 35, n. 2, p. 1, doi. 10.1093/cercor/bhaf040

By:

Lavery, Sarah;
Adepoju, Temilola E;
Fisher, Hayden B;
Chan, Claudia;
Kuhs, Amanda;
Ahrens-Nicklas, Rebecca C;
White, Brian R

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

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

Anästhesie und Ahornsirupkrankheit.

Published in:

Der Anaesthesist, 2010, v. 59, n. 10, p. 914, doi. 10.1007/s00101-010-1762-2

By:

Haberstich, P.;
Kindler, C. H.;
Schürch, M.

Publication type:

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

Bakteriyel Menenjitle Birlikte Akçaağaç Şurubu İdrar Hastalığı.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2015, v. 9, n. 4, p. 274, doi. 10.12956/tjpd.2015.179

By:

UÇAR, Şit;
ERTAŞ, Tahsin;
VARMA, Mustafa;
ACAR, Nasuh Kemal;
GÜNEŞ, Salih;
BAYSAL, İbrahim Halil

Publication type:

Article

Akçaağaç Şurubu İdrar Hastalığı Ensefalopatisinde MR ve Difüzyon MR Görüntüleri.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2015, v. 9, n. 1, p. 59, doi. 10.12956/tjpd.2014.86

By:

TAŞKIN, Birce Dilge;
BEKTAŞ, Ömer;
AKKUZU, Emine;
GÜNDÜZ, Mehmet;
ÜNAL, Sevim;
GÜNEŞ, Altan;
YILMAZ, Cahide

Publication type:

Article

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-78105-y

By:

Abdelkhalek, Zeinab S.;
Hussein, Shadia M.;
Mahmoud, Iman G.;
Ramadan, Areef;
Kamel, Mona A.;
Girgis, Marian Y.;
Elmonem, Mohamed A.

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

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

Neurocognitive Profile in a Case of Maple Syrup Urine Disease.

Published in:

Clinical Neuropsychologist, 2010, v. 24, n. 4, p. 689, doi. 10.1080/13854040903527279

By:

Walsh, Karin S.;
Scott, Megan N.

Publication type:

Article

Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 5, p. 698, doi. 10.1007/s00467-006-0044-3

By:

Phan, Véronique;
Marie-José Clermont;
Merouani, Aicha;
Litalien, Catherine;
Tucci, Marisa;
Lambert, Marie;
Mitchell, Grant;
Jouvet, Philippe

Publication type:

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

Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment.

Published in:

2016

By:

Kanakis, Menelaos G.;
Michelakakis, Helen;
Petrou, Petros;
Koutsandrea, Chrysanthi;
Georgalas, Ilias

Publication type:

Case Study

Akçaağaç Şurubu Hastalığı Olan Hastada Anestezi Yaklaşımı.

Published in:

Turkish Journal of Anesthesia & Reanimation, 2014, v. 42, n. 6, p. 355, doi. 10.5152/TJAR.2014.07830

By:

Karahan, Mahmut Alp;
Sert, Hüseyin;
Havlioğlu, İnanç;
Yüce, Hasan Hüsnü

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

Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy.

Published in:

2013

By:

Shah, Diva;
Nirula, Apoorv;
Shah, Dwiti

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

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

Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI.

Published in:

Pediatric Radiology, 2004, v. 34, n. 2, p. 163, doi. 10.1007/s00247-003-1058-7

By:

Jong Su Ha;
Taik-Kun Kim;
Baik-Lin Eun;
Hee Sun Lee;
Ki Yeol Lee;
Hae Young Seol;
Sang Hoon Cha

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

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

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

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

Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease.

Published in:

Intensive Care Medicine, 2001, v. 27, n. 11, p. 1798, doi. 10.1007/S00134-001-1124-2

By:

Jouvet, Philippe;
Jugie, Myriam;
Rabier, Daniel;
Desgrès, Jean;
Hubert, Philippe;
Marie Saudubray, Jean;
Nguyen Khoa Man

Publication type:

Article

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

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.

Published in:

QJM: An International Journal of Medicine, 2024, v. 117, n. 10, p. 717, doi. 10.1093/qjmed/hcae104

By:

Yang, X;
Yang, R;
Zhang, T;
Tan, D J;
Pan, R;
Chen, Z;
Wu, D;
Chen, C;
Xu, Y;
Zhang, L;
Li, X;
Shu, Q;
Hu, L

Publication type:

Article

Maple syrup urine disease in Brazil: a panorama of the last two decades.

Published in:

Jornal de Pediatria, 2015, v. 91, n. 3, p. 292, doi. 10.1016/j.jped.2014.08.010

By:

Herbera, Silvani;
Schwartz, Ida Vanessa D.;
Nalin, Tatiéle;
Oliveira Netto, Cristina Brinkmann;
Simon Camelo Junior, José;
Lúcia Santos, Mara;
Marques Ribeiro, Erlane;
Schüler-Faccini, Lavinia;
de Souza, Carolina Fischinger Moura

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

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

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

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

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

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

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 10, p. 1215, doi. 10.1515/jpem-2016-0096

By:

Abiri, Maryam;
Talebi, Saeed;
Uitto, Jouni;
Youssefian, Leila;
Vahidnezhad, Hassan;
Shirzad, Tina;
Salehpour, Shadab;
Zeinali, Sirous

Publication type:

Article

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03533-6

By:

Rostampour, Noushin;
Dalili, Setila;
Moravej, Hossein;
Afshar, Zhila;
Yazdani, Negar;
Mousavi, Seyedeh Tahereh;
Rostami, Parastoo;
Zamanfar, Daniel;
Yahay, Maryam;
Nikravesh, Abdolhossein;
Beyzaei, Zahra;
Davoodi, Mohamad Ahangar;
Sedaghat, Atefeh;
Hakemzadeh, Tahora;
Talea, Ali

Publication type:

Article

Changes in branched‐chain amino acids in an infant with maple syrup urine disease during perioperative pediatric liver transplant: A case report.

Published in:

Pediatric Anesthesia, 2024, v. 34, n. 4, p. 366, doi. 10.1111/pan.14842

By:

Saeyup, Pipat;
Tubjaroen, Chomchanat;
Kamolvisit, Wuttichart;
Chongsrisawat, Voranush;
Thaveepunsan, Winnie

Publication type:

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

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

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

Identification of gene mutations in six Chinese patients with maple syrup urine disease.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1132364

By:

Lulu Li;
Xinmei Mao;
Nan Yang;
Taoyun Ji;
Shunan Wang;
Yulan Ma;
Haihe Yang;
Yuting Sang;
Jinqi Zhao;
Lifei Gong;
Yue Tang;
Yuanyuan Kong

Publication type:

Article

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