Blaser S - Search Results

1

An unusually mild case of biotin-thiamine-responsive basal ganglia disease.

Lail G, Blaser S, Inbar-Feigenberg M. Lail G, et al. Among authors: blaser s. Mol Genet Metab Rep. 2023 Aug 27;37:101004. doi: 10.1016/j.ymgmr.2023.101004. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053933 Free PMC article.

2

Substrate reduction therapy in juvenile GM2 gangliosidosis.

Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT. Maegawa GH, et al. Among authors: blaser s. Mol Genet Metab. 2009 Sep-Oct;98(1-2):215-24. doi: 10.1016/j.ymgme.2009.06.005. Epub 2009 Jun 12. Mol Genet Metab. 2009. PMID: 19595619 Clinical Trial.

3

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Jain-Ghai S, et al. Among authors: blaser s. Mol Genet Metab. 2011 Sep-Oct;104(1-2):107-11. doi: 10.1016/j.ymgme.2011.06.025. Epub 2011 Jul 13. Mol Genet Metab. 2011. PMID: 21802329 Free PMC article.

4

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Siriwardena K, et al. Among authors: blaser s. Mol Genet Metab. 2013 Jan;108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3. Mol Genet Metab. 2013. PMID: 23266196

5

An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.

Miscevic F, Foong J, Schmitt B, Blaser S, Brudno M, Schulze A. Miscevic F, et al. Among authors: blaser s. Mol Genet Metab. 2016 Dec;119(4):300-306. doi: 10.1016/j.ymgme.2016.11.003. Epub 2016 Nov 9. Mol Genet Metab. 2016. PMID: 27847299

6

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Inbar-Feigenberg M, Blaser S, Hawkins C, Shannon P, Hewson S, Chitayat D. Inbar-Feigenberg M, et al. Among authors: blaser s. Metab Brain Dis. 2018 Aug;33(4):1369-1373. doi: 10.1007/s11011-018-0218-2. Epub 2018 Mar 25. Metab Brain Dis. 2018. PMID: 29574624

7

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B.

Hannah-Shmouni F, MacNeil L, Potter M, Jobling R, Yoon G, Laughlin S, Blaser S, Inbar-Feigenberg M. Hannah-Shmouni F, et al. Among authors: blaser s. Mol Genet Metab Rep. 2018 Dec 20;18:11-13. doi: 10.1016/j.ymgmr.2018.12.003. eCollection 2019 Mar. Mol Genet Metab Rep. 2018. PMID: 30619713 Free PMC article.

8

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.

Lee W, Costain G, Blaser S, Walker S, Marshall CR, Gonorazky H, Inbar-Feigenberg M. Lee W, et al. Among authors: blaser s. Mol Genet Metab Rep. 2020 Oct 19;25:100664. doi: 10.1016/j.ymgmr.2020.100664. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33101983 Free PMC article.

9

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui LC, Teebi AS. Lo B, et al. Among authors: blaser s. Clin Genet. 2004 Feb;65(2):137-42. doi: 10.1111/j.0009-9163.2004.00201.x. Clin Genet. 2004. PMID: 14984473

10

Basal ganglia germinoma in children with associated ipsilateral cerebral and brain stem hemiatrophy.

Ozelame RV, Shroff M, Wood B, Bouffet E, Bartels U, Drake JM, Hawkins C, Blaser S. Ozelame RV, et al. Among authors: blaser s. Pediatr Radiol. 2006 Apr;36(4):325-30. doi: 10.1007/s00247-005-0063-4. Epub 2006 Feb 4. Pediatr Radiol. 2006. PMID: 16463029

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