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578 results

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Page 1
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Jequier Gygax M, et al. Among authors: jakobs c. Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Eur J Pediatr. 2009. PMID: 19005678 Review.
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. Steenweg ME, et al. Among authors: jakobs c. Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647. Radiology. 2009. PMID: 19474378
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Knerr I, et al. Among authors: jakobs c. Pediatr Neurol. 2010 Apr;42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Pediatr Neurol. 2010. PMID: 20304328 Free PMC article.
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.
Ali Pervaiz M, Patterson MC, Struys EA, Salomons GS, Jakobs C, Oglesbee D, Kirmani S. Ali Pervaiz M, et al. Among authors: jakobs c. J Neurol. 2011 Aug;258(8):1564-5. doi: 10.1007/s00415-011-5977-1. Epub 2011 Mar 8. J Neurol. 2011. PMID: 21384162 Free article. No abstract available.
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL. Lapalme-Remis S, et al. Among authors: jakobs c. Neurology. 2015 Sep 8;85(10):861-5. doi: 10.1212/WNL.0000000000001906. Epub 2015 Aug 12. Neurology. 2015. PMID: 26268900 Free PMC article.
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: jakobs c. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974
578 results