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Items: 1 to 20 of 24

1.

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Pokora P, Jezela-Stanek A, Różdżyńska-Świątkowska A, Jurkiewicz E, Bogdańska A, Szymańska E, Rokicki D, Ciara E, Rydzanicz M, Stawiński P, Płoski R, Tylki-Szymańska A.

Metab Brain Dis. 2019 Apr;34(2):641-649. doi: 10.1007/s11011-018-0357-5. Epub 2018 Dec 20.

2.

Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.

Peng HH, Shaw SW, Huang KG.

Taiwan J Obstet Gynecol. 2018 Feb;57(1):137-140. doi: 10.1016/j.tjog.2017.12.023.

3.

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.

Tsai FC, Lee HJ, Wang AG, Hsieh SC, Lu YH, Lee MC, Pai JS, Chu TH, Yang CF, Hsu TR, Lai CJ, Tsai MT, Ho PH, Lin MC, Cheng LY, Chuang YC, Niu DM.

J Chin Med Assoc. 2017 Apr;80(4):253-261. doi: 10.1016/j.jcma.2016.07.006. Epub 2017 Mar 13.

4.

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Vester ME, Visser G, Wijburg FA, van Spronsen FJ, Williams M, van Rijn RR.

Eur J Pediatr. 2016 Jul;175(7):1001-6. doi: 10.1007/s00431-016-2734-6. Epub 2016 May 31.

5.

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

Wang Q, Yang YL.

Zhongguo Dang Dai Er Ke Za Zhi. 2016 May;18(5):460-5. Review. Chinese.

6.

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Mohamed S, Hamad MH, Hassan HH, Salih MA.

Saudi Med J. 2015 Nov;36(11):1354-7. doi: 10.15537/smj.2015.11.12132.

7.

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

Vester ME, Bilo RA, Karst WA, Daams JG, Duijst WL, van Rijn RR.

Forensic Sci Med Pathol. 2015 Sep;11(3):405-15. doi: 10.1007/s12024-015-9698-0. Epub 2015 Jul 29. Review.

8.

Glutaric aciduria type 1--importance of early diagnosis and treatment.

Afroze B, Yunus ZM.

J Pak Med Assoc. 2014 May;64(5):593-5.

9.

Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane.

Teng WN, Lin SM, Niu DM, Kuo YM, Chan KH, Sung CS.

J Chin Med Assoc. 2014 Oct;77(10):548-51. doi: 10.1016/j.jcma.2014.06.010. Epub 2014 Aug 5.

10.

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins.

Schmiesing J, Schlüter H, Ullrich K, Braulke T, Mühlhausen C.

PLoS One. 2014 Feb 3;9(2):e87715. doi: 10.1371/journal.pone.0087715. eCollection 2014.

11.

Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.

Young-Lin N, Shalev S, Glenn OA, Gardner M, Lee C, Wynshaw-Boris A, Gelfand AA.

Neurology. 2013 Dec 10;81(24):e182-3. doi: 10.1212/01.wnl.0000437291.75075.53.

12.

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.

Pfeil J, Listl S, Hoffmann GF, Kölker S, Lindner M, Burgard P.

Orphanet J Rare Dis. 2013 Oct 17;8:167. doi: 10.1186/1750-1172-8-167.

13.

Difficult management of glucose homeostasis in a 21-month-old child with type 1 diabetes and unknown glutaric aciduria type I: a case report.

Marigliano M, Anton G, Sabbion A, Morandi A, Morandi G, Degani D, Maffeis C.

Diabetes Care. 2013 Sep;36(9):e135-6. doi: 10.2337/dc13-0724. No abstract available.

14.

Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

Nunes J, Loureiro S, Carvalho S, Pais RP, Alfaiate C, Faria A, Garcia P, Diogo L.

Neuroradiol J. 2013 Apr;26(2):155-61. Epub 2013 May 10.

15.

Glutaric aciduria type 1 in Korea: report of two novel mutations.

Park JD, Lim B, Kim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, Park SS, Lee JS, Chae JH.

J Korean Med Sci. 2010 Jun;25(6):957-60. doi: 10.3346/jkms.2010.25.6.957. Epub 2010 May 24.

16.

Glutaric aciduria type 1 presenting with epilepsy.

McClelland VM, Bakalinova DB, Hendriksz C, Singh RP.

Dev Med Child Neurol. 2009 Mar;51(3):235-9. doi: 10.1111/j.1469-8749.2008.03240.x.

17.

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case.

Mellerio C, Marignier S, Roth P, Gaucherand P, des Portes V, Pracros JP, Guibaud L.

Ultrasound Obstet Gynecol. 2008 Jun;31(6):712-4. doi: 10.1002/uog.5336. No abstract available.

18.

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.

Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer SW, Muschol N, Herdering W, Thiem J, Goodman SI, Koeller DM, Ullrich K, Braulke T, Mühlhausen C.

Biochim Biophys Acta. 2008 Jun;1782(6):385-90. doi: 10.1016/j.bbadis.2008.02.008. Epub 2008 Feb 29.

19.

Citrobacter freundii infection in glutaric aciduria type 1: adding insult to injury.

Mukhopadhyay C, Dey A, Bairy I.

J Postgrad Med. 2008 Jan-Mar;54(1):35-6.

20.

Glutaric aciduria type 1 in a Kuwaiti infant.

Elsori HA, Naguib KK, Hammoud MS.

East Mediterr Health J. 2004 Jul-Sep;10(4-5):680-4. No abstract available.

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