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Select item 94106481.

Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report

Lina Men, Jinxing Feng, Weimin Huang, Mingguo Xu, Xiaoli Zhao, Ruixin Sun, Jianfang Xu, Liming Cao

Medicine (Baltimore) 2022 Aug 26; 101(34): e30303. Published online 2022 Aug 26. doi: 10.1097/MD.0000000000030303

PMCID:: PMC9410648

Abstract Article PDF–1.2M

Select item 86580062.

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family

Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud, Lenaig Abily-Donval, Alice Goldenberg, Gajja S. Salomons, Stéphane Marret, Soumeya Bekri, Abdellah Tebani

Int J Mol Sci. 2021 Dec; 22(23): 12633. Published online 2021 Nov 23. doi: 10.3390/ijms222312633

PMCID:: PMC8658006

Abstract Article PDF–1.9M

Select item 81472963.

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Matthias Christen, Nils Janzen, Anne Fraser, Adrian C. Sewell, Vidhya Jagannathan, Julien Guevar, Tosso Leeb, Daniel Sanchez-Masian

Genes (Basel) 2021 May; 12(5): 682. Published online 2021 May 1. doi: 10.3390/genes12050682

PMCID:: PMC8147296

Abstract Article PDF–1.0M

Select item 67754104.

Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review

Junling Cui, Yuanyuan Wang, Huifeng Zhang, Xiaopu Cui, Lihui Wang, Huacheng Zheng

Medicine (Baltimore) 2019 Sep; 98(39): e17334. Published online 2019 Sep 27. doi: 10.1097/MD.0000000000017334

PMCID:: PMC6775410

Abstract Article PDF–411K

Select item 63441455.

Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency

Yulian Fang, Chunquan Cai, Chao Wang, Bei Sun, Xinjie Zhang, Wenxuan Fan, Wenchao Hu, Yingtao Meng, Shuxiang Lin, Chunhua Zhang, Yuqin Zhang, Jianbo Shu

Medicine (Baltimore) 2019 Jan; 98(1): e14021. Published online 2019 Jan 4. doi: 10.1097/MD.0000000000014021

PMCID:: PMC6344145

Abstract Article PDF–617K

Select item 44378366.

Diagnostic Evaluation of Rhabdomyolysis

Jessica R. Nance, Andrew L. Mammen

Muscle Nerve. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Muscle Nerve. 2015 Jun; 51(6): 793–810. Published online 2015 Mar 14. doi: 10.1002/mus.24606

PMCID:: PMC4437836

Abstract Article PDF–692K

Select item 44256957.

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

Frits A. Wijburg, Bernard Bénichou, Daniel G. Bichet, Lorne A. Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J. Hopkin, Michael Mauer, Behzad Najafian, C. Ronald Scott, Suma P. Shankar, Beth L. Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami

PLoS One. 2015; 10(5): e0124987. Published online 2015 May 8. doi: 10.1371/journal.pone.0124987

PMCID:: PMC4425695

Abstract Article PDF–553K

Select item 37025088.

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

Nicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, Pierre Allard, Orval A. Mamer, Lawrence Sweetman, Ann B. Moser, Lisa Kratz, Fernando Alvarez, Yves Robitaille, François Lépine, Grant A. Mitchell

PLoS One. 2013; 8(7): e60581. Published online 2013 Jul 5. doi: 10.1371/journal.pone.0060581

PMCID:: PMC3702508

Abstract Article PDF–774K

Select item 35165999.

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker

Am J Hum Genet. 2012 Dec 7; 91(6): 1082–1087. doi: 10.1016/j.ajhg.2012.10.006

PMCID:: PMC3516599

Abstract Article PDF–495K

Select item 341024810.

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Jung Min Ko, Choong Ho Shin, Sei Won Yang, Moon Woo Seong, Sung Sup Park, Junghan Song

J Korean Med Sci. 2012 Aug; 27(8): 961–964. Published online 2012 Jul 25. doi: 10.3346/jkms.2012.27.8.961

PMCID:: PMC3410248

Abstract Article PDF–667K

Select item 288898811.

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) Deficiency

G. Di Rosa, P. Malaspina, P. Blasi, C. Dionisi-Vici, C. Rizzo, G. Tortorella, S. R. Crutchfield, K. M. Gibson

J Inherit Metab Dis. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: J Inherit Metab Dis. 2009 Dec; 32(Suppl 1): 201–205. Published online 2009 May 30. doi: 10.1007/s10545-009-1154-4

PMCID:: PMC2888988

Abstract Article PDF–283K

Select item 242721412.

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

Barbara Kloeckener-Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger

Am J Hum Genet. 2008 Mar 3; 82(3): 772–779. Published online 2008 Feb 29. doi: 10.1016/j.ajhg.2007.12.013