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Items: 1 to 20 of 265

1.

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. Epub 2010 Sep 17.

PMID:
20836999
2.

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. Epub 2013 Dec 9.

PMID:
24332224
3.

Diagnosis and management of glutaric aciduria type I--revised recommendations.

Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P.

J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. Review.

4.

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. Epub 2015 Dec 4.

PMID:
26656312
5.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S.

Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11.

PMID:
19433437
6.

[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
7.

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. Epub 2015 Jun 10.

PMID:
26071121
8.

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
9.

[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.

PMID:
27165598
10.

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. Epub 2012 Jan 10.

PMID:
22231382
11.

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.

Del Rizzo M, Galderisi A, Celato A, Furlan F, Giordano L, Cazzorla C, Fasan I, Moretti C, Zschocke J, Burlina AB.

Eur J Pediatr. 2016 Aug;175(8):1123-8. doi: 10.1007/s00431-016-2699-5. Epub 2016 Feb 5.

PMID:
26847429
12.

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. Epub 2013 Jul 24.

PMID:
23884036
13.

[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
14.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK.

Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1.

PMID:
27397597
15.

[Progress of glutaric aciduria type I].

Gao JZ, Luo XP.

Zhonghua Er Ke Za Zhi. 2012 Dec;50(12):912-4. Review. Chinese. No abstract available.

PMID:
23324148
16.

Glutaric aciduria type 1 presenting as subdural haematoma.

Carman KB, Aydogdu SD, Yakut A, Yarar C.

J Paediatr Child Health. 2012 Aug;48(8):712. doi: 10.1111/j.1440-1754.2012.02513.x. No abstract available.

PMID:
22882417
17.

[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
18.

GAI - distinct genotype and phenotype characteristics in reported Slovak patients.

Lisyova J, Petrovic R, Jurickova K, Brennerova K, Urbanova D, Behulova D, Bzduch V, Chandoga J.

Bratisl Lek Listy. 2016;117(11):631-638. doi: 10.4149/BLL_2016_123.

PMID:
28125888
19.

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. Epub 2013 Feb 5.

PMID:
23395213
20.

Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency).

Singh P, Goraya JS, Ahluwalia A, Saggar K.

Neurology. 2011 Jul 5;77(1):e6. doi: 10.1212/WNL.0b013e31822313f6. No abstract available.

PMID:
21727264

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