Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 290

1.

Variation in cognitive function over time in Gaucher disease type 3.

Steward AM, Wiggs E, Lindstrom T, Ukwuani S, Ryan E, Tayebi N, Roshan Lal T, Lopez G, Schiffmann R, Sidransky E.

Neurology. 2019 Nov 12. pii: 10.1212/WNL.0000000000008618. doi: 10.1212/WNL.0000000000008618. [Epub ahead of print]

PMID:
31719137
2.

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.

Nowak A, Huynh-Do U, Krayenbuehl PA, Beuschlein F, Schiffmann R, Barbey F.

J Inherit Metab Dis. 2019 Aug 26. doi: 10.1002/jimd.12167. [Epub ahead of print]

PMID:
31449323
3.

Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.

Morand O, Johnson J, Walter J, Atkinson L, Kline G, Frey A, Politei J, Schiffmann R.

Adv Ther. 2019 Oct;36(10):2866-2880. doi: 10.1007/s12325-019-01061-x. Epub 2019 Aug 21.

4.

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Schiffmann R, Bichet DG, Benjamin E, Wu X, Giugliani R.

Mol Genet Metab Rep. 2019 Jul 19;20:100494. doi: 10.1016/j.ymgmr.2019.100494. eCollection 2019 Sep. No abstract available.

5.

Diagnosis, prognosis, and treatment of leukodystrophies.

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI.

Lancet Neurol. 2019 Oct;18(10):962-972. doi: 10.1016/S1474-4422(19)30143-7. Epub 2019 Jul 12. Review.

PMID:
31307818
6.

Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Mochel F, Delorme C, Czernecki V, Froger J, Cormier F, Ellie E, Fegueux N, Lehéricy S, Lumbroso S, Schiffmann R, Aubourg P, Roze E, Labauge P, Nguyen S.

J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1375-1376. doi: 10.1136/jnnp-2019-320701. Epub 2019 Jun 18. No abstract available.

PMID:
31213485
7.

The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells.

Tian W, Ye Z, Wang S, Schulz MA, Van Coillie J, Sun L, Chen YH, Narimatsu Y, Hansen L, Kristensen C, Mandel U, Bennett EP, Jabbarzadeh-Tabrizi S, Schiffmann R, Shen JS, Vakhrushev SY, Clausen H, Yang Z.

Nat Commun. 2019 Apr 30;10(1):1785. doi: 10.1038/s41467-019-09809-3.

8.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F.

AJNR Am J Neuroradiol. 2019 May;40(5):788-791. doi: 10.3174/ajnr.A6036. Epub 2019 Apr 25.

PMID:
31023660
9.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.

Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.

10.

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.

van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Feb 20 [updated 2019 Apr 4].

11.

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.

Hughes DA, Nicholls K, Sunder-Plassmann G, Jovanovic A, Feldt-Rasmussen U, Schiffmann R, Giugliani R, Jain V, Viereck C, Castelli JP, Skuban N, Barth JA, Bichet DG.

Am J Med Genet A. 2019 Jun;179(6):1069-1073. doi: 10.1002/ajmg.a.61105. Epub 2019 Mar 28. No abstract available.

12.

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.

Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL.

J Biol Chem. 2019 May 3;294(18):7445-7459. doi: 10.1074/jbc.RA118.006271. Epub 2019 Mar 21.

13.

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G.

Mov Disord Clin Pract. 2019 Jan 9;6(2):155-159. doi: 10.1002/mdc3.12715. eCollection 2019 Feb.

PMID:
30838315
14.

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.

Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D.

J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8.

PMID:
30834538
15.

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Raymond GV, Schiffmann R.

Neurology. 2019 Jan 8;92(2):61-62. doi: 10.1212/WNL.0000000000006721. Epub 2018 Dec 7. No abstract available.

PMID:
30530794
16.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G.

Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9.

PMID:
29859719
17.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.

Orphanet J Rare Dis. 2018 Apr 27;13(1):68. doi: 10.1186/s13023-018-0813-7.

18.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.

Bremova-Ertl T, Schiffmann R, Patterson MC, Belmatoug N, Billette de Villemeur T, Bardins S, Frenzel C, Malinová V, Naumann S, Arndt J, Mengel E, Reinke J, Strobl R, Strupp M.

Front Neurol. 2018 Jan 15;8:711. doi: 10.3389/fneur.2017.00711. eCollection 2017.

19.

Low frequency of Fabry disease in patients with common heart disease.

Schiffmann R, Swift C, McNeill N, Benjamin ER, Castelli JP, Barth J, Sweetman L, Wang X, Wu X.

Genet Med. 2018 Jul;20(7):754-759. doi: 10.1038/gim.2017.175. Epub 2017 Oct 26.

PMID:
29227985
20.

Prognostic value of urinary 11-dehydro-thromboxane B2 for mortality: A cohort study of stable coronary artery disease patients treated with aspirin.

Vasudevan A, Tecson KM, Bennett-Firmin J, Bottiglieri T, Lopez LR, Peterson M, Sathyamoorthy M, Schiffmann R, Schussler JM, Swift C, Velasco CE, McCullough PA.

Catheter Cardiovasc Interv. 2018 Oct 1;92(4):653-658. doi: 10.1002/ccd.27437. Epub 2017 Nov 29.

PMID:
29193683
21.

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F.

J Inherit Metab Dis. 2018 Sep;41(5):877-883. doi: 10.1007/s10545-017-0103-x. Epub 2017 Nov 6.

PMID:
29110179
22.

Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression.

Meng XL, Arning E, Wight-Carter M, Day TS, Jabbarzadeh-Tabrizi S, Chen S, Ziegler RJ, Bottiglieri T, Schneider JW, Cheng SH, Schiffmann R, Shen JS.

J Inherit Metab Dis. 2018 Mar;41(2):231-238. doi: 10.1007/s10545-017-0107-6. Epub 2017 Nov 6.

PMID:
29110178
23.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A.

Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.

PMID:
28973395
24.

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.

McNeill N, Nasca A, Reyes A, Lemoine B, Cantarel B, Vanderver A, Schiffmann R, Ghezzi D.

Neurol Genet. 2017 Jul 14;3(4):e162. doi: 10.1212/NXG.0000000000000162. eCollection 2017 Aug.

25.

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.

Eur J Med Genet. 2017 Sep;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21.

26.

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.

Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T.

Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032.

PMID:
28158561
27.

Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery Disease.

McCullough PA, Vasudevan A, Sathyamoorthy M, Schussler JM, Velasco CE, Lopez LR, Swift C, Peterson M, Bennett-Firmin J, Schiffmann R, Bottiglieri T.

Am J Cardiol. 2017 Apr 1;119(7):972-977. doi: 10.1016/j.amjcard.2016.12.004. Epub 2017 Jan 5.

PMID:
28139223
28.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
29.

Residual thromboxane activity and oxidative stress: influence on mortality in patients with stable coronary artery disease.

Vasudevan A, Bottiglieri T, Tecson KM, Sathyamoorthy M, Schussler JM, Velasco CE, Lopez LR, Swift C, Peterson M, Bennett-Firmin J, Schiffmann R, McCullough PA.

Coron Artery Dis. 2017 Jun;28(4):287-293. doi: 10.1097/MCA.0000000000000461.

PMID:
28005558
30.

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants.

Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.

31.

Gaucher disease: Progress and ongoing challenges.

Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):8-21. doi: 10.1016/j.ymgme.2016.11.006. Epub 2016 Nov 17. Review.

32.

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.

Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):1-7. doi: 10.1016/j.ymgme.2016.10.010. Epub 2016 Nov 12.

PMID:
27866832
33.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.

34.

Oxidative stress reflected by increased F2-isoprostanes is associated with increasing urinary 11-dehydro thromboxane B2 levels in patients with coronary artery disease.

McCullough PA, Vasudevan A, Lopez LR, Swift C, Peterson M, Bennett-Firmin J, Schiffmann R, Bottiglieri T.

Thromb Res. 2016 Dec;148:85-88. doi: 10.1016/j.thromres.2016.10.022. Epub 2016 Oct 26. No abstract available.

PMID:
27815971
35.

BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases.

Zhong XZ, Sun X, Cao Q, Dong G, Schiffmann R, Dong XP.

Sci Rep. 2016 Sep 27;6:33684. doi: 10.1038/srep33684.

36.

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ.

Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.

37.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

38.

Update on Leukodystrophies: A Historical Perspective and Adapted Definition.

Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS.

Neuropediatrics. 2016 Dec;47(6):349-354. Epub 2016 Aug 26. Review.

PMID:
27564080
39.

Fabry Disease: A Disorder of Childhood Onset.

Schiffmann R, Ries M.

Pediatr Neurol. 2016 Nov;64:10-20. doi: 10.1016/j.pediatrneurol.2016.07.001. Epub 2016 Jul 29. Review.

PMID:
27555236
40.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.

41.

Brain MRI and motor function in leukodystrophies.

Schiffmann R, Banwell B.

Neurology. 2016 Aug 23;87(8):748-9. doi: 10.1212/WNL.0000000000003017. Epub 2016 Jul 20. No abstract available.

PMID:
27440145
42.

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy.

Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A.

Drug Des Devel Ther. 2016 May 25;10:1771-81. doi: 10.2147/DDDT.S102761. eCollection 2016.

43.

Is it Fabry disease?

Schiffmann R, Fuller M, Clarke LA, Aerts JM.

Genet Med. 2016 Dec;18(12):1181-1185. doi: 10.1038/gim.2016.55. Epub 2016 May 19. Review.

PMID:
27195818
44.

Whole exome sequencing in patients with white matter abnormalities.

Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ.

Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9.

45.

Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

Abdelwahab M, Blankenship D, Schiffmann R.

Neurol Genet. 2016 Feb 25;2(2):e55. doi: 10.1212/NXG.0000000000000055. eCollection 2016 Apr.

46.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L.

PLoS Genet. 2016 Apr 27;12(4):e1005848. doi: 10.1371/journal.pgen.1005848. eCollection 2016 Apr.

47.

Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.

Meng XL, Day TS, McNeill N, Ashcraft P, Frischmuth T, Cheng SH, Liu ZP, Shen JS, Schiffmann R.

J Inherit Metab Dis. 2016 May;39(3):447-455. doi: 10.1007/s10545-016-9920-6. Epub 2016 Mar 10.

PMID:
26960552
48.

A genetic form of achlorhydria and gastritis.

Schiffmann R.

Am J Clin Nutr. 2015 Dec;102(6):1615. doi: 10.3945/ajcn.115.120550. No abstract available.

PMID:
26628570
49.

Fabry disease.

Schiffmann R.

Handb Clin Neurol. 2015;132:231-48. doi: 10.1016/B978-0-444-62702-5.00017-2. Review.

PMID:
26564084
50.

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E.

J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3.

Supplemental Content

Loading ...
Support Center