Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population by Omar Tabbouche, Amer Saker, Harry Mountain

Subjects: Get full text

PERAWATAN GIGI PADA ANAK DENGAN MAPLE SYRUP URINE DISEASE (LAPORAN KASUS) by Tri Fajari, Ismu Suharsono Suwelo

Subjects: “…MSUD…”
Get full text

Use of HPLC-UV method for the analysis of maple syrup urine disease in plasma sample first time in Saudi Arabia by Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain

Subjects: “…msud hplc analysis…”
Get full text

Loss of the Drosophila branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction by Hui-Ying Tsai, Shih-Cheng Wu, Jian-Chiuan Li, Yu-Min Chen, Chih-Chiang Chan, Chun-Hong Chen

Subjects: “…msud…”
Get full text

The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome by Montaser M. Mohamed, Mohamed A. Bakheet, Rofaida M. Magdy, Heba S. El‐Abd, Mohamad Hasan Alam‐Eldeen, Hany M. Abo‐Haded

Subjects: Get full text

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease by Shao Ching Tu, Marium Khan, Katie Wolfe, Sakil S. Kulkarni, Elizabeth Toolan, Dorothy K. Grange

Subjects: Get full text

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact by Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair

Subjects: “…msud…”
Get full text

Enfermedad de la orina con olor a jarabe de Arce (MSUD) y aciduria metilmalónica. Presentación neonatal by M. Bermúdez, C. Arteaga, C. Rojas, S. Torres, B. Merinero, C. Pérez

Subjects: Get full text

Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease by Alyaa A. Kotby, Marwa M. Al-Fahham, Heba Salah A. Elabd, Osama K. Zaki

Subjects: Get full text

Maple syrup urine disease in Brazil: a panorama of the last two decades by Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, Carolina Fischinger Moura de Souza

Subjects: Get full text

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series by Maryam Ziadlou, Anita MacDonald

Subjects: Get full text

Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease by Trine Tangeraas, Erle Kristensen, Lars Mørkrid, Elisabeth Elind, Yngve Thomas Bliksrud, Lars Eide

Subjects: Get full text

Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report by Sujata Baidya, June Thapa, Anuradha Kadel, Nikita Kharal, Machhindra Lamichhane, Raju Kumar Dubey, Mithileshwer Raut, Aseem Bhattarai, Eans Tara Tuladhar, Vijay Kumar Sharma, Apeksha Niraula

Subjects: “…Maple syrup urine disease (MSUD)…”
Get full text

Lipid changes in the metabolome of a single case study with maple syrup urine disease (MSUD) after five days of improved diet adherence of controlled branched-chain amino acids (BC... by Teresa D. Douglas, L. Kristin Newby, Julie Eckstrand, Douglas Wixted, Rani H. Singh

Subjects: “…MSUD…”
Get full text

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning by Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam

Subjects: “…intermediate MSUD…”
Get full text

Liquid chromatography-mass spectrometric method for the simultaneous analysis of branched-chain amino acids and their ketoacids from dried blood spot as secondary analytes for the... by Arya Raveendran, Ashutosh Gupta, Leslie E. Lewis, Krishnananda Prabhu, Sudheer Moorkoth

Subjects: Get full text

Successful pregnancy in maple syrup urine disease: a case report and review of the literature by Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, Karl Otfried Schwab, Nadja Mingirulli, Ute Spiekerkoetter

Subjects: Get full text

The Nuclear Cap-Binding Complex Mediates Meiotic Silencing by Unpaired DNA by Logan M. Decker, Hua Xiao, Erin C. Boone, Michael M. Vierling, Benjamin S. Shanker, Shanika L. Kingston, Shannon F. Boone, Jackson B. Haynes, Patrick K.T. Shiu

Subjects: “…meiotic silencing by unpaired DNA (MSUD)…”
Get full text

Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease by Paula Sánchez-Pintos, Paula Sánchez-Pintos, Paula Sánchez-Pintos, Paula Sánchez-Pintos, Silvia Meavilla, Silvia Meavilla, María Goretti López-Ramos, María Goretti López-Ramos, Ángeles García-Cazorla, Ángeles García-Cazorla, Maria L. Couce, Maria L. Couce, Maria L. Couce, Maria L. Couce

Subjects: Get full text

An NCBP3-Domain Protein Mediates Meiotic Silencing by Unpaired DNA by Erin C. Boone, Hua Xiao, Michael M. Vierling, Logan M. Decker, Victor T. Sy, Rana F. Kennedy, Marilyn A. Bonham, Shannon F. Schmitz, Annie M. John, Thomas M. Hammond, Patrick K. T. Shiu

Subjects: “…meiotic silencing by unpaired dna (msud)…”
Get full text