Glycogen Storage Diseases: Next-Generation Medicine

by Derks,Terry G. J., Souza,Carolina Fischinger Moura de
Published 2017

Tratamento de erros inatos do metabolismo

by Schwartz,Ida Vanessa, Souza,Carolina Fischinger Moura de, Giugliani,Roberto
Published 2008

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family

by Dantas,Vitor G.L., Lezirovitz,Karina, Yamamoto,Guilherme L., Souza,Carolina Fischinger Moura de, Ferreira,Simone Gomes, Mingroni-Netto,Regina C.
Published 2014

Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients

by Ermel,Erica Leitao, Carneiro,Lauriane Caroline, Souza,Carolina Fischinger Moura de, Crippa,Ana Chrystina de Souza, Sanseverino,Maria Teresa Vieira, Raskin,Salmo
Published 2013

Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial

by Vasconcellos,Luiz Felipe Rocha, Leite,Ana Claudia Celestino, Cavalcanti,José Luis Sá, Moreira,Denise Madeira, Feijó,Denise, Souza,Carolina Fischinger Moura de
Published 2007

Polymerase chain reaction as a useful and simple tool for rapid diagnosis of tuberculous meningitis in a Brazilian tertiary care hospital

by Dora,José Miguel, Geib,Guilherme, Chakr,Rafael, Paris,Fernanda de, Mombach,Alice Beatriz, Lutz,Larissa, Souza,Carolina Fischinger Moura de, Goldani,Luciano Z.
Published 2008

Lysosomal diseases: Overview on current diagnosis and treatment

by Poswar,Fabiano de Oliveira, Vairo,Filippo, Burin,Maira, Michelin-Tirelli,Kristiane, Brusius-Facchin,Ana Carolina, Kubaski,Francyne, Souza,Carolina Fischinger Moura de, Baldo,Guilherme, Giugliani,Roberto
Published 2019

Maple syrup urine disease in Brazil: a panorama of the last two decades

by Herber,Silvani, Schwartz,Ida Vanessa D., Nalin,Tatiéle, Netto,Cristina Brinkmann Oliveira, Camelo Junior,José Simon, Santos,Mara Lúcia, Ribeiro,Erlane Marques, Schüler-Faccini,Lavinia, Souza,Carolina Fischinger Moura de
Published 2015

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

by Pinheiro,Franciele Cabral, Ligabue-Braun,Rodrigo, Siqueira,Ana Cecília Menezes de, Matuella,Camila, Souza,Carolina Fischinger Moura de, Monteiro,Fabíola Paoli, Kok,Fernando, Schwartz,Ida Vanessa Doederlein, Sperb-Ludwig,Fernanda
Published 2021

Comparison of the performance of polymerase chain reaction and pp65 antigenemia for the detection of human cytomegalovirus in immunosuppressed patients

by Martiny,Patrícia Borba, de-Paris,Fernanda, Machado,Alice Beatriz Mombach Pinheiro, Mello,Ricardo Obalski de, Senger,Martha Bergman, Corrêa,Maria Clara Medina, Werres Junior,Luiz Carlos, Souza,Carolina Fischinger Moura de
Published 2011

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

by Magalhães,Ana Paula Pereira Scholz de, Burin,Maira Graeff, Souza,Carolina Fischinger Moura de, de Bitencourt,Fernanda Hendges, Sebastião,Fernanda Medeiros, Silva,Thiago Oliveira, Vairo,Filippo Pinto e, Schwartz,Ida Vanessa Doederlein
Published 2020

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

by Vieira,Taiane Alves, Trapp,Franciele Barbosa, Souza,Carolina Fischinger Moura de, Faccini,Lavínia Schuler, Jardim,Laura Bannach, Schwartz,Ida Vanessa Doederlein, Riegel,Mariluce, Vargas,Carmen Regla, Burin,Maira Graeff, Leistner-Segal,Sandra, Ashton-Prolla,Patrícia, Giugliani,Roberto
Published 2019

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

by Saute,Jonas Alex Morales, Souza,Carolina Fischinger Moura de, Poswar,Fabiano de Oliveira, Donis,Karina Carvalho, Campos,Lillian Gonçalves, Deyl,Adriana Vanessa Santini, Burin,Maira Graeff, Vargas,Carmen Regla, Matte,Ursula da Silveira, Giugliani,Roberto, Saraiva-Pereira,Maria Luiza, Vedolin,Leonardo Modesti, Gregianin,Lauro José, Jardim,Laura Bannach
Published 2016