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Items: 13

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 55485242.

Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

Kruthika-Vinod TP, Shaik Muntaj, K. S. Devaraju, M. Kamate, A. B. Vedamurthy

J Pediatr Genet. 2017 Sep; 6(3): 142–148. Published online 2017 Mar 7. doi: 10.1055/s-0037-1599202

PMCID:: PMC5548524

Article PDF–218K

Select item 54026443.

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting

Orphanet J Rare Dis. 2017; 12: 77. Published online 2017 Apr 24. doi: 10.1186/s13023-017-0612-6

PMCID:: PMC5402644

Article PDF–4.1M

Select item 53487024.

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Xiaoying Zhang, Qiong Luo

Exp Ther Med. 2017 Feb; 13(2): 560–566. Published online 2016 Dec 28. doi: 10.3892/etm.2016.4007

PMCID:: PMC5348702

Article PDF–556K

Select item 49081555.

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients

Marloes E.M. Vester, Gepke Visser, Frits A. Wijburg, Francjan J. van Spronsen, Monique Williams, Rick R. van Rijn

Eur J Pediatr. 2016; 175: 1001–1006. Published online 2016 May 31. doi: 10.1007/s00431-016-2734-6

PMCID:: PMC4908155

Article PDF–345K

Select item 45294726.

Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review

Marloes E. M. Vester, Rob A. C. Bilo, Wouter A. Karst, Joost G. Daams, Wilma L. J. M. Duijst, Rick R. van Rijn

Forensic Sci Med Pathol. 2015; 11(3): 405–415. Published online 2015 Jul 29. doi: 10.1007/s12024-015-9698-0

PMCID:: PMC4529472

Article PDF–741K

Select item 44709567.

Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, Shivaram Shastri, Sheffali Gulati, Atin Kumar, Anuja Agarwala, Seema Kapoor, Mohandas Nair, Savita Sapra, Sudhisha Dubey, Ankur Singh, Punit Kaur, Madhulika Kabra

JIMD Rep. 2015; 21: 45–55. Published online 2015 Mar 12. doi: 10.1007/8904_2014_377

Correction in:: JIMD Rep. 2015; 21: 129.

PMCID:: PMC4470956

Article PDF–541K

Select item 43619318.

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

M. J. Fraidakis, C. Liadinioti, L. Stefanis, A. Dinopoulos, R. Pons, M. Papathanassiou, J. Garcia-Villoria, A. Ribes

JIMD Rep. 2015; 18: 85–92. Published online 2014 Sep 26. doi: 10.1007/8904_2014_353

PMCID:: PMC4361931

Article PDF–347K

Select item 38981419.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, David N. Cooper

Hum Genet. 2014; 133(1): 1–9. Published online 2013 Sep 28. doi: 10.1007/s00439-013-1358-4

PMCID:: PMC3898141

Article PDF–535K

Select item 386334510.

Teaching NeuroImages: Infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia

Nichole Young-Lin, Sarah Shalev, Orit A. Glenn, Marisa Gardner, Chung Lee, Anthony Wynshaw-Boris, Amy A. Gelfand

Neurology. 2013 Dec 10; 81(24): e182–e183. doi: 10.1212/01.wnl.0000437291.75075.53

PMCID:: PMC3863345

Article PDF–348K

Select item 329906811.

Glutaric aciduria type I: A treatable neurometabolic disorder

Mahesh Kamate, Vishwanath Patil, Vivek Chetal, Pavan Darak, Virupaxi Hattiholi

Ann Indian Acad Neurol. 2012 Jan-Mar; 15(1): 31–34. doi: 10.4103/0972-2327.93273

PMCID:: PMC3299068

Article PDF–515K

Select item 310924312.

Diagnosis and management of glutaric aciduria type I – revised recommendations

Stefan Kölker, Ernst Christensen, James V. Leonard, Cheryl R. Greenberg, Avihu Boneh, Alberto B. Burlina, Alessandro P. Burlina, Marjorie Dixon, Marinus Duran, Angels García Cazorla, Stephen I. Goodman, David M. Koeller, Mårten Kyllerman, Chris Mühlhausen, Edith Müller, Jürgen G. Okun, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard

J Inherit Metab Dis. 2011; 34(3): 677–694. Published online 2011 Mar 23. doi: 10.1007/s10545-011-9289-5