Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 169

1.

[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].

Wen P-, Wang GB, Liu XH, Chen ZL, Shang Y, Cui D, Song P, Yuan Q, Chen SL, Liao JX, Li CR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):642-7. doi: 10.3760/cma.j.issn.1003-9406.2012.06.004. Chinese.

PMID:
23225040
2.

[Mutation analysis of GCDH gene in four patients with glutaric academia type I].

Liu Q, Chen Y, Chen W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):187-91. doi: 10.3760/cma.j.issn.1003-9406.2015.02.008. Chinese.

PMID:
25863083
3.

[Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].

Chen J, Wang ZX, Zhang JL, Yang YL, Chen J, Huang YN.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):374-8. doi: 10.3760/cma.j.issn.1003-9406.2011.04.003. Chinese.

PMID:
21811973
4.

[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].

Wang Q, Ding Y, Liu Y, Li X, Wu T, Song J, Wang Y, Yang Y.

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):415-9. Chinese.

PMID:
25190159
5.

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y.

Brain Dev. 2014 Oct;36(9):813-22. doi: 10.1016/j.braindev.2013.11.006.

PMID:
24332224
6.

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Zhang Y, Li H, Ma R, Mei L, Wei X, Liang D, Wu L.

Clin Chim Acta. 2016 Jan 30;453:75-9. doi: 10.1016/j.cca.2015.12.003.

PMID:
26656312
7.

[Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].

Shi X, Ke Z, Zheng A, Xie W, Mo G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):608-11. doi: 10.3760/cma.j.issn.1003-9406.2014.01.015. Chinese.

PMID:
25297592
8.

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A.

Eur J Paediatr Neurol. 2013 Jul;17(4):383-9. doi: 10.1016/j.ejpn.2013.01.003.

PMID:
23395213
9.

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E.

J Inherit Metab Dis. 2012 Sep;35(5):787-96. doi: 10.1007/s10545-011-9437-y.

PMID:
22231382
10.

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.

Radha Rama Devi A, Ramesh VA, Nagarajaram HA, Satish SP, Jayanthi U, Lingappa L.

Brain Dev. 2016 Jan;38(1):54-60. doi: 10.1016/j.braindev.2015.05.013.

PMID:
26071121
11.

Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.

Popek M, Walter M, Fernando M, Lindner M, Schwab KO, Sass JO.

Clin Chim Acta. 2010 Dec 14;411(23-24):2087-91. doi: 10.1016/j.cca.2010.09.006.

PMID:
20836999
12.

A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.

Kim HS, Yu HJ, Lee J, Park HD, Kim JH, Shin HJ, Jin DK, Lee M.

Ann Clin Lab Sci. 2014 Spring;44(2):213-6.

PMID:
24795062
13.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T.

Hum Mol Genet. 2008 Dec 15;17(24):3854-63. doi: 10.1093/hmg/ddn284.

PMID:
18775954
14.

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A.

Clin Biochem. 2014 Sep;47(13-14):1300-5. doi: 10.1016/j.clinbiochem.2014.06.017.

PMID:
24973495
15.

Molecular determination of glutaric aciduria type I in individuals from southwest Iran.

Baradaran M, Galehdari H, Aminzadeh M, Azizi Malmiri R, Tangestani R, Karimi Z.

Arch Iran Med. 2014 Sep;17(9):629-32. doi: 0141709/AIM.009.

16.

[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.

17.

Disturbance of the glutamatergic system by glutaric acid in striatum and cerebral cortex of glutaryl-CoA dehydrogenase-deficient knockout mice: possible implications for the neuropathology of glutaric acidemia type I.

Busanello EN, Fernandes CG, Martell RV, Lobato VG, Goodman S, Woontner M, de Souza DO, Wajner M.

J Neurol Sci. 2014 Nov 15;346(1-2):260-7. doi: 10.1016/j.jns.2014.09.003.

PMID:
25241940
18.

Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N.

Mol Genet Metab. 2012 Aug;106(4):430-8. doi: 10.1016/j.ymgme.2012.05.024.

PMID:
22728054
19.

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.

Herskovitz M, Goldsher D, Sela BA, Mandel H.

Neurology. 2013 Aug 27;81(9):849-50. doi: 10.1212/WNL.0b013e3182a2cbf2.

PMID:
23884036
20.

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

Sauer SW, Opp S, Komatsuzaki S, Blank AE, Mittelbronn M, Burgard P, Koeller DM, Okun JG, Kölker S.

Biochim Biophys Acta. 2015 May;1852(5):768-77. doi: 10.1016/j.bbadis.2014.12.022.

Items per page

Supplemental Content

Support Center