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Select item 16836721.

Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.

B Zhang, R S Wappner, I K Brandt, R A Harris, D W Crabb

Am J Hum Genet. 1990 Apr; 46(4): 843–846.

PMCID:: PMC1683672

Summary Page Browse PDF–744K

Select item 3464032.

Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

D T Chuang, L S Ku, R P Cox

Proc Natl Acad Sci U S A. 1982 May; 79(10): 3300–3304. doi: 10.1073/pnas.79.10.3300

PMCID:: PMC346403

Summary Page Browse PDF–1.0M

Select item 106507423.

Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology

Topaz Kreiser, Ilana Sogolovsky-Bard, Dor Zaguri, Shira Shaham-Niv, Dana Laor Bar-Yosef, Ehud Gazit

Int J Mol Sci. 2023 Nov; 24(21): 15999. Published online 2023 Nov 6. doi: 10.3390/ijms242115999

PMCID:: PMC10650742

Abstract Article PDF–3.7M

Select item 104485514.

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

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

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 302–306. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2021.2021.0173

PMCID:: PMC10448551

Abstract Article PDF–548K

Select item 102392055.

Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease

Jin-Ping Zhang, Zhi-Jun Zhu, Li-Ying Sun, Lin Wei, Wei Qu, Zhi-Gui Zeng, Hai-Ming Zhang, Ying Liu

Ann Transplant. 2023; 28: e939893-1–e939893-9. Prepublished online 2023 May 9. Published online 2023 May 30. doi: 10.12659/AOT.939893

PMCID:: PMC10239205

Abstract Article PDF–541K

Select item 100649126.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Anhar Hassan

Tremor Other Hyperkinet Mov (N Y) 2023; 13: 9. Published online 2023 Mar 28. doi: 10.5334/tohm.747

PMCID:: PMC10064912

Abstract Article PDF–842K

Select item 97391897.

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

Natalia Semenova, Andrey Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova

Int J Mol Sci. 2022 Dec; 23(23): 15026. Published online 2022 Nov 30. doi: 10.3390/ijms232315026

PMCID:: PMC9739189

Abstract Article PDF–202K

Select item 96548658.

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide, María L. Couce, Elena Martín-Hernández, Pilar Quijada-Fraile, Luis Peña-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodríguez-Pombo, Belén Pérez

Int J Mol Sci. 2022 Nov; 23(21): 12850. Published online 2022 Oct 25. doi: 10.3390/ijms232112850

PMCID:: PMC9654865

Abstract Article PDF–1.8M

Select item 95421359.

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

Charles J. Billington, Jr, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth I. Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano‐Ozog

Am J Med Genet A. 2022 Sep; 188(9): 2738–2749. Published online 2022 Jul 7. doi: 10.1002/ajmg.a.62893

PMCID:: PMC9542135

Abstract Article PDF–2.4M

Select item 930254510.

Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency

Patricia Karissa, Timothy Simpson, Simon P. Dawson, Teck Yew Low, Sook Hui Tay, Fatimah Diana Amin Nordin, Shamsul Mohd Zain, Pey Yee Lee, Yuh-Fen Pung

Br J Biomed Sci. 2022; 79: 10382. Published online 2022 May 19. doi: 10.3389/bjbs.2022.10382

PMCID:: PMC9302545

Abstract Article PDF–947K

Select item 918320611.

Whole-body metabolic fate of branched-chain amino acids

Megan C. Blair, Michael D. Neinast, Zoltan Arany

Biochem J. Author manuscript; available in PMC 2022 Jun 9.

Published in final edited form as: Biochem J. 2021 Feb 26; 478(4): 765–776. doi: 10.1042/BCJ20200686

PMCID:: PMC9183206

Abstract Article PDF–700K

Select item 917428412.

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

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

Nat Commun. 2022; 13: 3278. Published online 2022 Jun 7. doi: 10.1038/s41467-022-30880-w

PMCID:: PMC9174284

Abstract Article PDF–1.6M

Select item 887225613.

A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism

Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Alice Dianin, Gaetano Cantalupo, Irene Monge, Sarah Carcereri, Margherita Lucia De Bernardi, Massimo Delledonne, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Giorgio Piacentini, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Andrea Bordugo

Genes (Basel) 2022 Feb; 13(2): 233. Published online 2022 Jan 26. doi: 10.3390/genes13020233

PMCID:: PMC8872256

Abstract Article PDF–1.5M

Select item 858008114.

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

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

Mol Genet Genomic Med. 2021 Oct; 9(10): e1790. Published online 2021 Aug 25. doi: 10.1002/mgg3.1790

PMCID:: PMC8580081

Abstract Article PDF–926K

Select item 854028515.

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency

Orna Staretz-Chacham, Ben Pode-Shakked, Eyal Kristal, Smadar Yaala Abraham, Keren Porper, Ohad Wormser, Ilan Shelef, Yair Anikster

Nutrients. 2021 Oct; 13(10): 3523. Published online 2021 Oct 7. doi: 10.3390/nu13103523

PMCID:: PMC8540285

Abstract Article PDF–486K

Select item 846074516.

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Xiaohua Fang, Xiaofan Zhu, Yin Feng, Ying Bai, Xuechao Zhao, Ning Liu, Xiangdong Kong

Sci Rep. 2021; 11: 18939. Published online 2021 Sep 23. doi: 10.1038/s41598-021-98357-2

Correction in:: Sci Rep. 2021; 11: 21044.

PMCID:: PMC8460745

Abstract Article PDF–1.6M

Select item 817219017.

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

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

Mol Genet Genomic Med. 2021 May; 9(5): e1616. Published online 2021 May 6. doi: 10.1002/mgg3.1616

PMCID:: PMC8172190

Abstract Article PDF–795K

Select item 760368418.

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

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

Orphanet J Rare Dis. 2020; 15: 309. Published online 2020 Nov 1. doi: 10.1186/s13023-020-01590-7

PMCID:: PMC7603684

Abstract Article PDF–852K

Select item 743472919.

Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease

Thi T. N. Nguyen, Chi D. Vu, Ngoc L. Nguyen, Thi T. H. Nguyen, Ngoc K. Nguyen, Huy H. Nguyen

Mol Genet Genomic Med. 2020 Aug; 8(8): e1337. Published online 2020 Jun 9. doi: 10.1002/mgg3.1337

PMCID:: PMC7434729

Abstract Article PDF–1.4M

Select item 740307420.

双胎新生儿枫糖尿病及其基因突变分析

李涛, 王瑜, 李粹, 徐玮玮, 牛峰海, 张娣

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Dec 25; 18(12): 1242–1246. Chinese. doi: 10.7499/j.issn.1008-8830.2016.12.009

PMCID:: PMC7403074

Abstract Article PDF–1.4M

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