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[Should a metabolic work-up be performed in autism?].
Schiff M, Delorme R, Benoist JF, Ogier de Baulny H. Schiff M, et al. Arch Pediatr. 2010 Jun;17(6):802-3. doi: 10.1016/S0929-693X(10)70119-6. Arch Pediatr. 2010. PMID: 20654901 French. No abstract available.
High homocysteine induces betaine depletion.
Imbard A, Benoist JF, Esse R, Gupta S, Lebon S, de Vriese AS, de Baulny HO, Kruger W, Schiff M, Blom HJ. Imbard A, et al. Among authors: schiff m. Biosci Rep. 2015 Apr 28;35(4):e00222. doi: 10.1042/BSR20150094. Biosci Rep. 2015. PMID: 26182429 Free PMC article.
Angelman syndrome and isovaleric acidemia: What is the link?
Lambrecht A, Pichard S, Maurey H, Segarra NG, Drunat S, Acquaviva-Bourdain C, Passemard S, Benoist JF, Fauret-Amsellem AL, Schiff M. Lambrecht A, et al. Among authors: schiff m. Mol Genet Metab Rep. 2015 Mar 30;3:36-8. doi: 10.1016/j.ymgmr.2015.03.004. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937393 Free PMC article.
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Harbulot C, Paquay S, Dorboz I, Pichard S, Bourillon A, Benoist JF, Jardel C, Ogier de Baulny H, Boespflug-Tanguy O, Schiff M. Harbulot C, et al. Among authors: schiff m. Mol Genet Metab Rep. 2016 Mar 10;7:8-10. doi: 10.1016/j.ymgmr.2016.03.001. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331002 Free PMC article.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, Dorboz I, Gilleron M, Goetzman ES, Gaignard P, Slama A, Elmaleh-Bergès M, Romero NB, Rustin P, Ogier de Baulny H, Paulo JA, Harper JW, Schiff M. Guarani V, et al. Among authors: schiff m. Elife. 2016 Sep 13;5:e17163. doi: 10.7554/eLife.17163. Elife. 2016. PMID: 27623147 Free PMC article.
706 results