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Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.

Alegra T, Sperb-Ludwig F, Guarany NR, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Horovitz DDG, Schwartz IVD.

J Pediatr Genet. 2019 Dec;8(4):198-204. doi: 10.1055/s-0039-1697605. Epub 2019 Sep 24.


Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.

Magalhães APPS, Burin MG, Souza CFM, Bitencourt FH, Sebastião FM, Silva TO, Vairo FPE, Schwartz IVD.

J Pediatr (Rio J). 2019 Oct 30. pii: S0021-7557(19)30617-5. doi: 10.1016/j.jped.2019.05.008. [Epub ahead of print]


Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S.

Hum Mutat. 2019 Oct 3. doi: 10.1002/humu.23928. [Epub ahead of print]


Emergomyces: The global rise of new dimorphic fungal pathogens.

Schwartz IS, Govender NP, Sigler L, Jiang Y, Maphanga TG, Toplis B, Botha A, Dukik K, Hoving JC, Muñoz JF, de Hoog S, Cuomo CA, Colebunders R, Kenyon C.

PLoS Pathog. 2019 Sep 19;15(9):e1007977. doi: 10.1371/journal.ppat.1007977. eCollection 2019 Sep. No abstract available.


Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD.

Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11.


The use of genome sequencing to investigate an outbreak of hospital-acquired mucormycosis in transplant patients.

Marek C, Croxen MA, Dingle TC, Bharat A, Schwartz IS, Wiens R, Smith S.

Transpl Infect Dis. 2019 Oct;21(5):e13163. doi: 10.1111/tid.13163. Epub 2019 Sep 13.


Candida auris.

Schwartz IS, Dingle TC.

CMAJ. 2019 Aug 6;191(31):E865. doi: 10.1503/cmaj.190433. No abstract available.


Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil.

Herber S, Silva AA, Sanseverino MTV, Friedrich L, Ranieri TMS, Favreto C, Fraga LR, Terra AP, Schwartz IVD, Schuler-Faccini L.

J Pediatr (Rio J). 2019 Sep - Oct;95(5):600-606. doi: 10.1016/j.jped.2018.05.013. Epub 2018 Jul 4.


Effect of BTD gene variants on in vitro biotinidase activity.

Borsatto T, Sperb-Ludwig F, Blom HJ, Schwartz IVD.

Mol Genet Metab. 2019 Aug;127(4):361-367. doi: 10.1016/j.ymgme.2019.07.006. Epub 2019 Jul 17.


Emerging Fungal Infections: New Patients, New Patterns, and New Pathogens.

Friedman DZP, Schwartz IS.

J Fungi (Basel). 2019 Jul 20;5(3). pii: E67. doi: 10.3390/jof5030067. Review.


Monomeric and homotrimeric solution structures of truncated human peroxidasin 1 variants.

Paumann-Page M, Tscheliessnig R, Sevcnikar B, Katz RS, Schwartz I, Hofbauer S, Pfanzagl V, Furtmüller PG, Obinger C.

Biochim Biophys Acta Proteins Proteom. 2019 Jul 8:140249. doi: 10.1016/j.bbapap.2019.07.002. [Epub ahead of print]


Hypertension is associated with increased post-exercise albuminuria, which may be attenuated by an active lifestyle.

Grupper A, Ehrenwald M, Schwartz D, Berliner S, Shashar M, Baruch R, Schwartz IF, Rogowski O, Zeltser D, Shapira I, Shenhar-Tsarfaty S.

J Clin Hypertens (Greenwich). 2019 Aug;21(8):1171-1179. doi: 10.1111/jch.13624. Epub 2019 Jul 8.


Bacterial Content of Fortified and Unfortified Holder Pasteurized Donor Human Milk During Prolonged Refrigerated Storage.

Mandru C, Perrin MT, Iyer R, Liveris D, Schwartz I, Alpan G, Parvez B.

J Pediatr Gastroenterol Nutr. 2019 Oct;69(4):487-492. doi: 10.1097/MPG.0000000000002427.


Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183.

Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB.

Mol Genet Metab. 2019 Jul;127(3):216-217. doi: 10.1016/j.ymgme.2019.04.009. Epub 2019 Jun 20. No abstract available.


[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Siebert M, Jobim M, Vairo F, Schwartz IVD.

Genet Mol Biol. 2019 Jun 10. pii: S1415-47572019005022104. doi: 10.1590/1678-4685-GMB-2018-0246. [Epub ahead of print]


Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.

Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10.


Utility of CT assessment in hematology patients with invasive aspergillosis: a post-hoc analysis of phase 3 data.

Jin J, Wu D, Liu Y, Pan S, Yan JL, Aram JA, Lou YJ, Meng H, Chen X, Zhang X, Schwartz IS, Patterson TF.

BMC Infect Dis. 2019 May 28;19(1):471. doi: 10.1186/s12879-019-4039-7.


The associations between initial radiographic findings and interventions for renal hemorrhage after high-grade renal trauma: Results from the Multi-Institutional Genitourinary Trauma Study.

Keihani S, Putbrese BE, Rogers DM, Zhang C, Nirula R, Luo-Owen X, Mukherjee K, Morris BJ, Majercik S, Piotrowski J, Dodgion CM, Schwartz I, Elliott SP, DeSoucy ES, Zakaluzny S, Sherwood BG, Erickson BA, Baradaran N, Breyer BN, Fick CN, Smith BP, Okafor BU, Askari R, Miller B, Santucci RA, Carrick MM, Kocik JF, Hewitt T, Burks FN, Heilbrun ME, Myers JB; in conjunction with the Trauma and Urologic Reconstruction Network of Surgeons.

J Trauma Acute Care Surg. 2019 Jun;86(6):974-982. doi: 10.1097/TA.0000000000002254.


Effectiveness of a tele-rehabilitation intervention to improve performance and reduce morbidity for people post hip fracture - study protocol for a randomized controlled trial.

Gilboa Y, Maeir T, Karni S, Eisenberg ME, Liebergall M, Schwartz I, Kaufman Y.

BMC Geriatr. 2019 May 20;19(1):135. doi: 10.1186/s12877-019-1141-z.


Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

Wilke MVMB, Dornelles AD, Schuh AS, Vairo FP, Basgalupp SP, Siebert M, Nalin T, Piltcher OB, Schwartz IVD.

Orphanet J Rare Dis. 2019 May 10;14(1):103. doi: 10.1186/s13023-019-1079-4.


Blueprint for nanoscale NMR.

Schwartz I, Rosskopf J, Schmitt S, Tratzmiller B, Chen Q, McGuinness LP, Jelezko F, Plenio MB.

Sci Rep. 2019 May 6;9(1):6938. doi: 10.1038/s41598-019-43404-2.


Something wicked this way comes: What health care providers need to know about Candida auris.

Schwartz IS, Smith SW, Dingle TC.

Can Commun Dis Rep. 2018 Nov 1;44(11):271-276. doi: 10.14745/ccdr.v44i11a01. eCollection 2018 Nov 1.


Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, Souza CFM, Schwartz IVD, Matte U, Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):197-206. doi: 10.1590/1678-4685-GMB-2018-0092. Epub 2019 Apr 11.


Differences in muscle activity and fatigue of the upper limb between Task-Specific training and robot assisted training among individuals post stroke.

Shahar N, Schwartz I, Portnoy S.

J Biomech. 2019 May 24;89:28-33. doi: 10.1016/j.jbiomech.2019.04.005. Epub 2019 Apr 10.


Quantum Control and Sensing of Nuclear Spins by Electron Spins under Power Limitations.

Aharon N, Schwartz I, Retzker A.

Phys Rev Lett. 2019 Mar 29;122(12):120403. doi: 10.1103/PhysRevLett.122.120403.


Parathyroid Computed Tomography Angiography: Early Experience with a Novel Imaging Technique in Primary Hyperparathyroidism.

Schwartz IE, Capra GG, Mullin DP, Johnson TE, Boswell GE.

Otolaryngol Head Neck Surg. 2019 Aug;161(2):251-256. doi: 10.1177/0194599819842106. Epub 2019 Apr 9.


Functional electrical stimulation compared with ankle-foot orthosis in subacute post stroke patients with foot drop: A pilot study.

Karniel N PT, MSc, Raveh E PT, PhD, Schwartz I MD, Portnoy S MSc, PhD.

Assist Technol. 2019 Apr 4:1-8. doi: 10.1080/10400435.2019.1579269. [Epub ahead of print]


Hepatic glycogen storage diseases are associated to microbial dysbiosis.

Colonetti K, Bento Dos Santos B, Nalin T, Moura de Souza CF, Triplett EW, Dobbler PT, Schwartz IVD, Roesch LFW.

PLoS One. 2019 Apr 2;14(4):e0214582. doi: 10.1371/journal.pone.0214582. eCollection 2019. Erratum in: PLoS One. 2019 Jun 6;14(6):e0218254.


The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S.

Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13.


The Associations Between Initial Radiographic Findings and Interventions for Renal Hemorrhage After High-Grade Renal Trauma: Results from the Multi-institutional Genito-Urinary Trauma Study (MiGUTS).

Keihani S, Putbrese BE, Rogers DM, Zhang C, Nirula R, Luo-Owen X, Mukherjee K, Morris BJ, Majercik S, Piotrowski J, Dodgion CM, Schwartz I, Elliott SP, DeSoucy ES, Zakaluzny S, Sherwood BG, Erickson BA, Baradaran N, Breyer BN, Fick CN, Smith BP, Okafor BU, Askari R, Miller B, Santucci RA, Carrick MM, Kocik JF, Hewitt T, Burks FN, Heilbrun ME, Myers JB; in conjunction with the Trauma and Urologic Reconstruction Network of Surgeons.

J Trauma Acute Care Surg. 2019 Mar 8. doi: 10.1097/TA.0000000000002254. [Epub ahead of print]


Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.

Pinheiro FC, Sperb-Ludwig F, Ligabue-Braun R, Schüler-Faccini L, de Souza CFM, Vairo F, Schwartz IVD.

Gene. 2019 May 30;699:102-109. doi: 10.1016/j.gene.2019.03.007. Epub 2019 Mar 9.


Strong association between higher-risk sex and HIV prevalence at the regional level: an ecological study of 27 sub-Saharan African countries.

Kenyon CR, Buyze J, Schwartz IS.

F1000Res. 2018 Dec 2;7:1879. doi: 10.12688/f1000research.17108.1. eCollection 2018.


Profound Decrease in Glomerular Arginine Transport by CAT (Cationic Amino Acid Transporter)-1 Contributes to the FLT-1 (FMS-Like Tyrosine Kinase 1) Induced Preeclampsia in the Pregnant Mice.

Shashar M, Zubkov A, Chernichovski T, Hershkovitz R, Hoffman E, Grupper A, Weinstein T, Schwartz IF.

Hypertension. 2019 Apr;73(4):878-884. doi: 10.1161/HYPERTENSIONAHA.118.12372.


Kidney transplantation in patients with inflammatory bowel diseases (IBD): analysis of transplantation outcome and IBD activity.

Grupper A, Schwartz D, Baruch R, Schwartz IF, Nakache R, Goykhman Y, Katz P, Lebedinsky A, Nachmany I, Lubezky N, Aouizerate J, Shashar M, Katchman H.

Transpl Int. 2019 Jul;32(7):730-738. doi: 10.1111/tri.13415. Epub 2019 Mar 10.


Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.


Systematic review with meta-analysis: mycophenolate mofetil as a second-line therapy for autoimmune hepatitis.

Santiago P, Schwartz I, Tamariz L, Levy C.

Aliment Pharmacol Ther. 2019 Apr;49(7):830-839. doi: 10.1111/apt.15157. Epub 2019 Feb 13. Review.


A nomogram predicting the need for bleeding interventions after high-grade renal trauma: Results from the American Association for the Surgery of Trauma Multi-institutional Genito-Urinary Trauma Study (MiGUTS).

Keihani S, Rogers DM, Putbrese BE, Moses RA, Zhang C, Presson AP, Hotaling JM, Nirula R, Luo-Owen X, Mukherjee K, Morris BJ, Majercik S, Piotrowski J, Dodgion CM, Schwartz I, Elliott SP, DeSoucy ES, Zakaluzny S, Sherwood BG, Erickson BA, Baradaran N, Breyer BN, Smith BP, Okafor BU, Askari R, Miller B, Santucci RA, Carrick MM, Kocik JF, Hewitt T, Burks FN, Heilbrun ME, Myers JB; in conjunction with the Trauma and Urologic Reconstruction Network of Surgeons.

J Trauma Acute Care Surg. 2019 May;86(5):774-782. doi: 10.1097/TA.0000000000002222.


Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014).

de Bitencourt FH, Schwartz IVD, Vianna FSL.

BMC Pediatr. 2019 Feb 8;19(1):52. doi: 10.1186/s12887-019-1421-y.


Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

Paskulin L, Dornelles AD, Quevedo A, Nalin T, Tirelli KM, Vairo F, Schwartz IVD.

Mol Genet Metab Rep. 2019 Jan 16;18:30-31. doi: 10.1016/j.ymgmr.2018.11.004. eCollection 2019 Mar. No abstract available.


Long term metabolic and renal outcomes of kidney donors compared to controls with excellent kidney function.

Grupper A, Angel Y, Baruch A, Schwartz IF, Schwartz D, Nakache R, Goykhman Y, Katz P, Nachmany I, Lubezky N, Weinstein T, Shashar M, Ben-Bassat OK, Berliner S, Rogowski O, Zeltser D, Shapira I, Shenhar-Tsarfaty S.

BMC Nephrol. 2019 Jan 31;20(1):30. doi: 10.1186/s12882-019-1214-4.


Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study.

Sperb-Ludwig F, Heineck BL, Michelin-Tirelli K, Alegra T, Schwartz IVD.

Clin Chim Acta. 2019 May;492:1-6. doi: 10.1016/j.cca.2019.01.018. Epub 2019 Jan 26.


Ultrapure Filter does not Confer Short-Term Benefits over Two Reverse Osmosis Systems in Chronic Hemodialysis Patients.

Grupper A, Shashar M, Weinstein T, Kliuk Ben Bassat O, Levy S, Schwartz IF, Angel A, Baruch A, Grupper A, Chernin G, Schwartz D.

Isr Med Assoc J. 2019 Jan;21(1):5-9.


Malnutrition Risk in Hemodialysis Patients in Israel: Results of the Status of Nutrition In Hemodialysis Patients Survey Study.

Boaz M, Azoulay O, Schwartz IF, Schwartz D, Assady S, Kristal B, Benshitrit S, Yanai N, Weinstein T.

Nephron. 2019;141(3):166-176. doi: 10.1159/000495150. Epub 2019 Jan 17.


Optimal timing of delayed excretory phase computed tomography scan for diagnosis of urinary extravasation after high-grade renal trauma.

Keihani S, Putbrese BE, Rogers DM, Patel DP, Stoddard GJ, Hotaling JM, Nirula R, Luo-Owen X, Mukherjee K, Morris BJ, Majercik S, Piotrowski J, Dodgion CM, Schwartz I, Elliott SP, DeSoucy ES, Zakaluzny S, Sherwood BG, Erickson BA, Baradaran N, Breyer BN, Fick CN, Smith BP, Okafor BU, Askari R, Miller B, Santucci RA, Carrick MM, Kocik JF, Hewitt T, Burks FN, Heilbrun ME, Myers JB; in conjunction with the Trauma and Urologic Reconstruction Network of Surgeons.

J Trauma Acute Care Surg. 2019 Feb;86(2):274-281. doi: 10.1097/TA.0000000000002098.


Effects of coaching on the fidelity of parent implementation of reciprocal imitation training.

Penney A, Schwartz I.

Autism. 2019 Aug;23(6):1497-1507. doi: 10.1177/1362361318816688. Epub 2018 Dec 7.


Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines.

Starosta RT, Pinto E Vairo F, Dornelles AD, Cerski CTS, Álvares-da-Silva MR, Schwartz IVD.

Blood Cells Mol Dis. 2019 Feb;74:34-36. doi: 10.1016/j.bcmd.2018.10.004. Epub 2018 Oct 18. No abstract available.


Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.

Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A.

Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Erratum in: Intern Med J. 2019 Aug;49(8):1059.


Cytokines levels in late-diagnosed Classical Homocystinuria patients.

Poloni S, Siebert M, Donis KC, Weber Hoss GR, Blom HJ, Schwartz IVD.

Mol Genet Metab Rep. 2018 Sep 28;17:43-44. doi: 10.1016/j.ymgmr.2018.09.003. eCollection 2018 Dec. No abstract available.


Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases.

Martinez CC, Tonon T, Nalin T, Refosco LF, de Souza CFM, Schwartz IVD.

JIMD Rep. 2019;45:21-27. doi: 10.1007/8904_2018_131. Epub 2018 Sep 22.


The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

Colonetti K, Roesch LF, Schwartz IVD.

Genet Mol Biol. 2018 Jul/Sept.;41(3):515-532. doi: 10.1590/1678-4685-GMB-2017-0235.

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