New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals

by VELHO,RENATA V., SPERB-LUDWIG,FERNANDA, SCHWARTZ,IDA V.D.
Published 2015

Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders

by Souza,Carolina F. Moura de, Oliveira,Bibiana M. de, Schwartz,Ida V D., Derks,Terry
Published 2021

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis

by Alegra,Taciane, Vairo,Filippo, de Souza,Monica V., Krug,Bárbara C., Schwartz,Ida V.D.
Published 2012

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

by SCHWARTZ,IDA V.D., JARDIM,LAURA B., PUGA,ANA C.S., COCOZZA,SÉRGIO, LEISTNER,SANDRA, LIMA,LUCIANE C.
Published 1999

Relato de um paciente brasileiro com síndrome de Wolfram

by Zen,Paulo R.G., Pinto,Louise L.C., Schwartz,Ida V.D., Barrett,Timothy G., Paskulin,Giorgio
Published 2002

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça

by Cardoso-Santos,Antonio, Azevedo,Ana C. M. M., Fagondes,Simone, Burin,Maira G., Giugliani,Roberto, Schwartz,Ida V. D.
Published 2008

Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II

by Pinto,Louise L. C., Schwartz,Ida V. D., Puga,Ana C. S., Vieira,Taiane A., Munoz,Maria Verônica R., Giugliani,Roberto
Published 2006

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

by Sperb-Ludwig,Fernanda, Alegra,Taciane, Velho,Renata Voltolini, Ludwig,Nataniel, Siebert,Marina, Jobim,Mariana, Vairo,Filippo, Schwartz,Ida V. D.
Published 2019

Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers

by Santos,Bruna Bento dos, Oliveira,Bibiana Mello de, Monteiro,Vaneisse C. Lima, Poloni,Soraia, Tonon,Tassia, Schwartz,Ida V. D.
Published 2022

Glycogen storage disease type I: clinical and laboratory profile

by Santos,Berenice L., Souza,Carolina F.M. de, Schuler-Faccini,Lavinia, Refosco,Lilia, Epifanio,Matias, Nalin,Tatiele, Vieira,Sandra M.G., Schwartz,Ida V.D.
Published 2014

Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study

by Santos,Bruna B. dos, Nalin,Tatiéle, Grokoski,Kamila C., Perry,Ingrid D. S., Refosco,Lilia F., Vairo,Filippo P., Souza,Carolina F. M., Schwartz,Ida V. D.
Published 2017

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

by Vargas,Carmen R., Coelho,Daniella de M., Barschak,Alethéa G., Souza,Carolina F.M. de, Puga,Ana C.S., Schwartz,Ida V.D., Jardim,Laura, Giugliani,Roberto
Published 2000

O ENSINO DE GENÉTICA NA MEDICINA: COMO OS ALUNOS PERCEBEM A GENÉTICA CLÍNICA

by Souza,Carolina F.M, Schwartz,Ida V. D., Ruschel,Sílvia P., Puga,Ana Cristina, Reis,Alexandre M., Costa,Fabrício S., Dias,Ricardo P., Flores,Renato Z., Schuler,Lavínia
Published 1996

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

by Málaga,Diana Rojas, Brusius-Facchin,Ana Carolina, Siebert,Marina, Pasqualim,Gabriela, Saraiva-Pereira,Maria Luiza, Souza,Carolina F.M de, Schwartz,Ida V.D., Matte,Ursula, Giugliani,Roberto
Published 2019

A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients

by Ludwig,Nataniel F, Sperb-Ludwig,Fernanda, Randon,Dévora N, Bernardi,Pricila, Giuliani,Liane R, Moreno,Carolina A, Cavalcanti,Denise P, Silva,Luiz CS da, Schwartz,Ida V D
Published 2021

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

by Herber,Silvani, Silva,André A., Sanseverino,Maria Teresa V., Friedrich,Luciana, Ranieri,Tani M.S., Favreto,Catia, Fraga,Lucas R., Terra,Anna P., Schwartz,Ida V.D., Schuler-Faccini,Lavínia
Published 2019

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in sou...

by Randon,Dévora N., Sperb-Ludwig,Fernanda, Vianna,Fernanda S. L., Becker,Ana P. P., Vargas,Carmen R., Sitta,Angela, Sant’Ana,Alexia N., Schwartz,Ida V. D., Bitencourt,Fernanda H. de
Published 2020

Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a: Perioperative Glucose and Lactate Homeostasis

by Wilke,Matheus V. M. B., Kleine,Ruben H. de, Wietasch,J. K. G., Amerongen,Cynthia C. A. van, Blokzijl,Hans, Spronsen,Francjan J. van, Schwartz,Ida V. D., Derks,Terry G. J.
Published 2016

Maternity in the Brazilian CV Lattes: when will it become a reality?

by STANISCUASKI,FERNANDA, ZANDONÀ,EUGENIA, REICHERT,FERNANDA, SOLETTI,ROSSANA C., OLIVEIRA,LETICIA DE, RICACHENEVSKY,FELIPE K., TAMAJUSUKU,ALESSANDRA S.K., KMETZSCH,LIVIA, SCHWARTZ,IDA V.D., WERNECK,FERNANDA P., LUDWIG,ZELIA M.C, LIMA,ELIADE F., INFANGER,CAMILA, NEUMANN,ADRIANA, BRANDÃO,ALESSANDRA, WIGGERS,GIULIA A., SEIXAS,ADRIANA, MELLO-CARPES,PAMELA B.
Published 2021

Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

by Poloni,Soraia, Hoss,Giovana W., Sperb-Ludwig,Fernanda, Borsatto,Taciane, Doriqui,Maria Juliana R., Leão,Emília K.E.A, Boa-Sorte,Ney, Lourenço,Charles M., Kim,Chong A., Souza,Carolina F. M. de, Rocha,Helio, Ribeiro,Marcia, Steiner,Carlos E., Moreno,Carolina A., Bernardi,Pricila, Valadares,Eugenia, Artigalas,Osvaldo, Carvalho,Gerson, Wanderley,Hector Y. C., D’Almeida,Vânia, Santana-da-Silva,Luiz C., Blom,Henk J., Schwartz,Ida V. D.
Published 2018