Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo... von Starosta, Rodrigo Tzovenos, Boyer, Suzanne, Tahata, Shawn, Raymond, Kimiyo, Lee, Hee Eun, Wolfe, Lynne A, Lam, Christina, Edmondson, Andrew C, Schwartz, Ida Vanessa Doederlein, Morava, Eva

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Nuclear morphometry and chromatin texture changes in hepatocellular carcinoma samples may predict outcomes of liver transplanted patients von Dos Santos, Jordan Boeira, Starosta, Rodrigo Tzovenos, Pilar, Emily Ferreira Salles, Kunz, Jefferson Daniel, Tomedi, Joelson, Cerski, Carlos Thadeu Schmidt, Ruppenthal, Rúbia Denise

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The specific impact of uremic toxins upon cognitive domains: a review von Franco, Álvaro de Oliveira, Starosta, Rodrigo Tzovenos, Roriz-Cruz, Matheus

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PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations von Starosta, Rodrigo Tzovenos, Kerashvili, Nino, Pruitt, Cassandra, Schultz, Matthew J, Boyer, Suzanne W, Morava, Eva, Lasio, Maria Laura Duque, Grange, Dorothy K

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Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience von Paskulin, Livia d’Avila, Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Krug, Bárbara C., Picon, Paulo, Schwartz, Ida Vanessa Doederlein

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Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations von Starosta, Rodrigo Tzovenos, Hou, Ying-Chen Claire, Leestma, Katelyn, Singh, Prapti, Viehl, Luke, Manwaring, Linda, Granadillo, Jorge Luis, Schroeder, Molly C., Colombo, Jamie N., Whitehead, Halana, Dickson, Patricia Irene, Hulbert, Monica L., Nguyen, Hoanh Thi

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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study von Wilke, Matheus Vernet Machado Bressan, de Oliveira, Bibiana Mello, Starosta, Rodrigo Tzovenos, Shinawi, Marwan, Lu, Liang, He, Mai, Ma, Yamin, Stoll, Janis, de Souza, Carolina Fischinger Moura, de Siqueira, Ana Cecilia Menezes, Vieira, Sandra Maria Gonçalves, Cerski, Carlos Thadeu, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein

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Liver involvement in patients with Gaucher disease types I and III von Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Dornelles, Alícia Dorneles, Basgalupp, Suélen Porto, Siebert, Marina, Pedroso, Maria Lúcia Alves, Cerski, Carlos Thadeu Schmidt, Álvares-da-Silva, Mário Reis, Schwartz, Ida Vanessa Doederlein

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Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1 von Starosta, Rodrigo Tzovenos, Siebert, Marina, Vairo, Filippo Pinto e, Costa, Bruno Lafaiete de Lima, Ponzoni, Christiano Tomaso, Schwartz, Ida Vanessa Doederlein, Cerski, Carlos Thadeu Schmidt

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Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 von d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida Vanessa Doederlein

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Corrected integrated density: a novel method for liver elastic fibers quantification in chronic hepatitis C von Leite, Carine, Starosta, Rodrigo Tzovenos, Trindade, Eduardo Neubarth, Trindade, Manoel Roberto Maciel, Álvares-da-Silva, Mário Reis, Cerski, Carlos Thadeu Schmidt

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Misdiagnosis of Streptococcus gallolyticus endocarditis von Starosta, Rodrigo Tzovenos, Rivero, Raquel, de Oliveira, Francine Hehn, Lopes, Eron, Cerski, Marcelle Reesink

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D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG) von Starosta, Rodrigo Tzovenos, Lee, Angela J., Toolan, Elizabeth R., He, Miao, Wongkittichote, Parith, Daniel, Earnest James Paul, Radenkovic, Silvia, Budhraja, Rohit, Pandey, Akhilesh, Sharma, Jaiprakash, Morava, Eva, Nguyen, Hoanh, Dickson, Patricia I.

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Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype von Ferrer, Alejandro, Starosta, Rodrigo Tzovenos, Ranatunga, Wasantha, Ungar, Dani, Kozicz, Tamas, Klee, Eric, Rust, Laura M., Wick, Myra, Morava, Eva

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Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome von Starosta, Rodrigo Tzovenos, Jensen, Nathaniel, Couteranis, Sophia, Slaugh, Rachel, Easterlin, Dawn, Tate, Victoria, Sams, Eleanor I, Valle, Kostandin, Akinwe, Titilope, Hou, Ying-Chen Claire, Turner, Tychele N, Cole, F Sessions, Milbrandt, Jeffrey, Dickson, Patricia

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DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype von Elsharkawi, Ibrahim, Wongkittichote, Parith, Daniel, Earnest James Paul, Starosta, Rodrigo Tzovenos, Ueda, Keisuke, Ng, Bobby G., Freeze, Hudson H., He, Miao, Shinawi, Marwan

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Nuclear Abnormalities in ILMNA/I p. Variant Segregating with ILMNA/I-Associated Cardiocutaneous Progeria Syndrome von Wilke, Matheus V. M. B, Wick, Myra, Schwab, Tanya L, Starosta, Rodrigo Tzovenos, Clark, Karl J, Connolly, Heidi M, Klee, Eric W

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Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment von Paskulin, Livia d'Ávila, Starosta, Rodrigo Tzovenos, Bertholdo, Débora, Vairo, Filippo Pinto, Vedolin, Leonardo, Schwartz, Ida Vanessa Doederlein

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Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11 von Starosta, Rodrigo Tzovenos, Granadillo, Jorge Luis, Patel, Kalyani R, Finegold, Milton J, Stoll, Janis, Kulkarni, Sakil

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Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expa... von Starosta, Rodrigo Tzovenos, Tarnowski, Jessica, Vairo, Filippo Pinto e, Raymond, Kimiyo, Preston, Graeme, Morava, Eva

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