Search Results - "Barth, Anneliese"

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future by Taylor, Madeleine, Khan, Shaukat, Stapleton, Molly, Wang, Jianmin, Chen, Jing, Wynn, Robert, Yabe, Hiromasa, Chinen, Yasutsugu, Boelens, Jaap Jan, Mason, Robert W., Kubaski, Francyne, Horovitz, Dafne D.G., Barth, Anneliese L., Serafini, Marta, Bernardo, Maria Ester, Kobayashi, Hironori, Orii, Kenji E., Suzuki, Yasuyuki, Orii, Tadao, Tomatsu, Shunji

“…•Several factors, including donor type, particular mucopolysaccharidoses (MPS) disorder, disease stage, clinical severity, preconditioning regimen, and…”
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Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study by Horovitz, Dafne D.G., Leão, Emília K.E.A., Ribeiro, Erlane M., Martins, Ana M., Barth, Anneliese L., Neri, João I.C.F., Kerstenetzky, Marcelo, Siqueira, Ana C.M., Ribeiro, Bethania F.R., Kim, Chong A., Santos, Francisca C., Franco, José F.S., Lichtvan, Leniza C.L., Giuliani, Liane R., Rodrigues, Maria Do C.S., Bonatti, Renata C.F., Teixeira, Thaís B., Gonçalves, Alexandra, Lourenço, Charles M., Pereira, Ane S.S., Acosta, Angelina X.

“…Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional…”
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Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up by Barth, Anneliese L., de Magalhães, Tatiana S.P.C., Reis, Ana Beatriz R., de Oliveira, Maria Lucia, Scalco, Fernanda B., Cavalcanti, Nicolette C., Silva, Daniel S. e, Torres, Danielle A., Costa, Alessandra A.P., Bonfim, Carmem, Giugliani, Roberto, Llerena, Juan C., Horovitz, Dafne D.G.

“…Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase…”
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series by Horovitz, Dafne Dain Gandelman, Acosta, Angelina X, Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C, Lopes Barth, Anneliese, Cardoso, Jr, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria

“…Enzyme replacement therapy (ERT) with laronidase (recombinant human α-L-iduronidase, Aldurazyme®) is indicated for non-neurological signs and symptoms of…”
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Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study by Pires de Mello, Paulo, Lopes Barth, Anneliese, de Araujo Torres, Danielle, Pires de Mello Valente, Mariana, Dain Gandelman Horovitz, Dafne

“…Mucopolysaccharidoses (MPS) are genetically determined diseases, leading to a deficiency of enzymes in the glycosaminoglycan (GAG) degradation pathway. The…”
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Mucopolysaccharidosis Type I by Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Matte, Ursula da Silveira, Horovitz, Dafne D, Barth, Anneliese Lopes, Baldo, Guilherme, Vairo, Filippo, Giugliani, Roberto

“…Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad…”
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Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II by Barth, Anneliese L, Horovitz, Dafne D

“…Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement…”
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Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study by Torres, Danielle de Araujo, Barth, Anneliese Lopes, Valente, Mariana Pires de Mello, Mello, Paulo Pires de, Horovitz, Dafne Dain Gandelman

“…Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism with an aggressive and usually fatal course. Therefore, early treatment is essential…”
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Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter by Horovitz, Dafne D.G., Barth, Anneliese L., Alves, Welton C., Llerena, Juan C.

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Challenges and hurdles to cope with Pompe disease in the Brazilian Unified Health System (SUS) frame: Lessons learned from a series of 19 patients from a national Rare Disease Reference Center in the state of Rio de Janeiro, Brazil by Llerena, Juan, Sixel, Bruna, Thomazinho, Paula, Salviano, Luanda, Scalco, Fernanda, Aragão, Amanda, Barth, Anneliese, Horovitz, Dafne D.G.

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Alpha-mannosidosis international caregiver and patient survey: Changes in mobility, pain or discomfort, and patients' self-care over time by Guffon, Nathalie, Lampe, Christina, Muschol, Nicole M., Dona, Francesca, Ballabeni, Andrea, Koulinska, Irene, Lopez-Rodriguez, Monica, Barth, Anneliese, Stepien, Karolina M.

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Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic by Horovitz, Dafne Dain Gandelman, Barth, Anneliese Lopes, Alves, Welton Correia, Llerena, Juan Clinton

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Marfan syndrome: importance of family history - case report by Leite, Maria de Fátima, Muniz, Carolina, Farias, Carla, Orofino, Dulce, Castellar Junior, Daltro, Barth, Anneliese

“…We describe a case of Marfan syndrome, referred for evaluation due to an important family history of sudden death. In the first evaluation, he presented…”
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Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II: A Literature Review and Critical Analysis by Barth, Anneliese L., Horovitz, Dafne D. G.

“…Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement…”
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Mucopolysaccharidoses and laryngeal, tracheal and bronchial disease: Type-specific abnormalities and long-term implications by Horovitz, Dafne D., de Mello, Paulo Pires, de Mello Valente, Mariana Pires, Torres, Danielle, Barth, Anneliese L.

“…Airway complications are among the most common early and lethal manifestations of mucopolysaccharidoses (MPS). Not much is known, however, on the anatomical…”
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Early enzyme replacement therapy in a CRIM positive classic infantile Pompe patient: 11-year follow-up of a still progressive disease by Barth, Anneliese Lopes, de Menezes, Livia Almeida, Nehab, Marcio, Meirelles, Antonio Flávio Vitarelli, Canedo, Nathalie Henriques Silva, Horovitz, Dafne Dain Gandelman, Llerena, Juan Clinton

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Bone/joint abnormalities in children/adolescents: A screening protocol for mucopolysaccharidosis by Horovitz, Dafne D.G., Barth, Anneliese L., Barros Mendes, Pedro H., Gonzaga, Mariana Q.G., Chisté, Yuri L., Medeiros, Rommel B., Oliveira, Maria L., Scalco, Fernanda B.

“…Mucopolysaccharidoses (MPS) are under-diagnosed, especially milder forms. A screening protocol was tested at the National Institute of Orthopedics in Rio de…”
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Enzyme replacement therapy in mucopolysaccharidosis type II with alternative dosing 1mg/kg idursulfase in every other week infusions by Horovitz, Dafne D., Barth, Anneliese L., Souza, Carolina F., Canossa, Sueli G., Curiati, Marco A., Kyosen, Sandra O., Oliveira, Maria L., Scalco, Fernanda B., Martins, Ana M.

“…Enzyme replacement therapy for mucopolysaccharidosis II (MPS II) with Idursulfase (ElapraseR) has proven effective in reducing urinary glycosaminoglycan (uGAG)…”
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Quantitation of glycosaminoglycans in amniotic fluid by liquid chromatography tandem mass spectrometry: A potential tool for the rapid prenatal identification of MPS in pregnancies at risk by Kubaski, Francyne, Kessler, Rejane G., Pereira, Danilo, Machado, Andryele Z., Moraes, Inamara S., Medeiros, Fernanda, Bender, Fernanda, Burin, Maira G., Michelin-Tirelli, Kristiane, Horovitz, Dafne, Barth, Anneliese, Mason, Robert W., Tomatsu, Shunji, Giugliani, Roberto

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Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses by Almeida, Julia Valeriano de, Barth, Anneliese Lopes, Costa, Alessandra Augusta Penna e, Horovitz, Dafne Dain Gandelman

“…Abstract Introduction Mucopolysaccharidoses (MPS) can lead to cervical spinal cord compression (SCC). Diagnostic scores for SCC in MPS use the obliteration of…”
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