11879084 22264649 10072048 27854232 33339220 31402618 9173917 33412266 23750936 36050898 30809411 27488123 34360669 7748356 1537353 33498293 34072857 10347277 31608604 22832342 1975398 34407566 2169713 32339936 22750651 3205374 - Search Results

Year	Number of Results
1988	1
1990	2
1992	1
1995	1
1996	1
1999	2
2002	1
2012	3
2013	1
2016	2
2019	3
2020	2
2021	5
2022	1
2023	0

1

Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.

Okajima K, Asai K, Niwa T, Ohki S, Sobajima H, Tyson J, Malcolm S, Wada Y. Okajima K, et al. Cleft Palate Craniofac J. 2002 Mar;39(2):246-8. doi: 10.1597/1545-1569_2002_039_0246_cabfoa_2.0.co_2. Cleft Palate Craniofac J. 2002. PMID: 11879084

2

Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks.

Zolkipli Z, Sherlock M, Biggar WD, Taylor G, Hutchison JS, Peliowski A, Alman BA, Ling SC, Tein I. Zolkipli Z, et al. Eur J Paediatr Neurol. 2012 Sep;16(5):549-53. doi: 10.1016/j.ejpn.2012.01.004. Epub 2012 Jan 20. Eur J Paediatr Neurol. 2012. PMID: 22264649

3

Abnormal fatty acid metabolism in childhood spinal muscular atrophy.

Crawford TO, Sladky JT, Hurko O, Besner-Johnston A, Kelley RI. Crawford TO, et al. Ann Neurol. 1999 Mar;45(3):337-43. doi: 10.1002/1531-8249(199903)45:3<337::aid-ana9>3.0.co;2-u. Ann Neurol. 1999. PMID: 10072048 Clinical Trial.

4

Stress-Induced Ketoacidosis in Spinal Muscular Atrophy: An Under-Recognized Complication.

Mulroy E, Gleeson S, Furlong MJ. Mulroy E, et al. J Neuromuscul Dis. 2016 Aug 30;3(3):419-423. doi: 10.3233/JND-160171. J Neuromuscul Dis. 2016. PMID: 27854232

5

Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy.

Li YJ, Chen TH, Wu YZ, Tseng YH. Li YJ, et al. Nutrients. 2020 Dec 16;12(12):3842. doi: 10.3390/nu12123842. Nutrients. 2020. PMID: 33339220 Free PMC article. Review.

6

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.

Deguise MO, Baranello G, Mastella C, Beauvais A, Michaud J, Leone A, De Amicis R, Battezzati A, Dunham C, Selby K, Warman Chardon J, McMillan HJ, Huang YT, Courtney NL, Mole AJ, Kubinski S, Claus P, Murray LM, Bowerman M, Gillingwater TH, Bertoli S, Parson SH, Kothary R. Deguise MO, et al. Ann Clin Transl Neurol. 2019 Aug;6(8):1519-1532. doi: 10.1002/acn3.50855. Epub 2019 Jul 26. Ann Clin Transl Neurol. 2019. PMID: 31402618 Free PMC article.

7

The neurobiology of childhood spinal muscular atrophy.

Crawford TO, Pardo CA. Crawford TO, et al. Neurobiol Dis. 1996 Apr;3(2):97-110. doi: 10.1006/nbdi.1996.0010. Neurobiol Dis. 1996. PMID: 9173917 Free article. Review. No abstract available.

8

Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.

Singh NN, Hoffman S, Reddi PP, Singh RN. Singh NN, et al. Biochim Biophys Acta Mol Basis Dis. 2021 Apr 1;1867(4):166063. doi: 10.1016/j.bbadis.2020.166063. Epub 2021 Jan 5. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33412266 Free PMC article. Review.

9

Spinal muscular atrophy: new findings for an old pathology.

Bottai D, Adami R. Bottai D, et al. Brain Pathol. 2013 Nov;23(6):613-22. doi: 10.1111/bpa.12071. Epub 2013 Jun 28. Brain Pathol. 2013. PMID: 23750936 Free PMC article. Review.

10

Alterations in insulin-like growth factor system in spinal muscular atrophy.

Kaymaz AY, Bal SK, Bora G, Talim B, Ozon A, Alikasifoglu A, Topaloglu H, Yurter HE. Kaymaz AY, et al. Muscle Nerve. 2022 Nov;66(5):631-638. doi: 10.1002/mus.27715. Epub 2022 Sep 15. Muscle Nerve. 2022. PMID: 36050898

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