Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease von Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J., Farhat, Nicole Y., Do, An Ngoc Dang, Porter, Forbes D., Berry-Kravis, Elizabeth, Vite, Charles H., Reunert, Janine, Marquardt, Thorsten, Giugliani, Roberto, Lourenço, Charles M., Bodamer, Olaf, Wang, Raymond Y., Plummer, Ellen, Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian

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Niemann-Pick disease type C symptomatology: an expert-based clinical description von Mengel, Eugen, Klünemann, Hans-Hermann, Lourenço, Charles M, Hendriksz, Christian J, Sedel, Frédéric, Walterfang, Mark, Kolb, Stefan A

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Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation von Ng, Bobby G., Lourenço, Charles M., Losfeld, Marie‐Estelle, Buckingham, Kati J., Kircher, Martin, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.

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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy von Manole, Andreea, Jaunmuktane, Zane, Hargreaves, Iain, Ludtmann, Marthe H R, Salpietro, Vincenzo, Bello, Oscar D, Pope, Simon, Pandraud, Amelie, Horga, Alejandro, Scalco, Renata S, Li, Abi, Ashokkumar, Balasubramaniem, Lourenço, Charles M, Heales, Simon, Horvath, Rita, Chinnery, Patrick F, Toro, Camilo, Singleton, Andrew B, Jacques, Thomas S, Abramov, Andrey Y, Muntoni, Francesco, Hanna, Michael G, Reilly, Mary M, Revesz, Tamas, Kullmann, Dimitri M, Jepson, James E C, Houlden, Henry

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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update von Patterson, Marc C, Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M, Ory, Daniel S, Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T, Walterfang, Mark, Marquardt, Thorsten

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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy von de Carvalho, Luciana Martins, Ngoumou, Gonza, Park, Ji Woo, Ehmke, Nadja, Deigendesch, Nikolaus, Kitabayashi, Naoki, Melki, Isabelle, Souza, Flávio Falcäo L., Tzschach, Andreas, Nogueira‐Barbosa, Marcello H., Ferriani, Virgínia, Louzada‐Junior, Paulo, Marques, Wilson, Lourenço, Charles M., Horn, Denise, Kallinich, Tilmann, Stenzel, Werner, Hur, Sun, Rice, Gillian I., Crow, Yanick J.

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Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 von Landouré, Guida, Zhu, Peng-Peng, Lourenço, Charles M., Johnson, Janel O., Toro, Camilo, Bricceno, Katherine V., Rinaldi, Carlo, Meilleur, Katherine G., Sangaré, Modibo, Diallo, Oumarou, Pierson, Tyler M., Ishiura, Hiroyuki, Tsuji, Shoji, Hein, Nichole, Fink, John K., Stoll, Marion, Nicholson, Garth, Gonzalez, Michael A., Speziani, Fiorella, Dürr, Alexandra, Stevanin, Giovanni, Biesecker, Leslie G., Accardi, John, Landis, Dennis M. D., Gahl, William A., Traynor, Bryan J., Marques Jr, Wilson, Züchner, Stephan, Blackstone, Craig, Fischbeck, Kenneth H., Burnett, Barrington G.

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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients von Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E, S Carvalho, Maria R, S Fonseca, Pablo A, S Camelo, Jr, José, M Ribeiro, Erlane, F V de Medeiros, Paula, M Lourenço, Charles, F M de Souza, Carolina, Boy, Raquel, Félix, Têmis M, M Bittar, Camila, L C Pinto, Louise, C Neto, Eurico, J Blom, Henk, D Schwartz, Ida V

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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world von Lourenço, Charles M, Pessoa, Andre, Mendes, Carmen C, Rivera‐Nieto, Carolina, Vergara, Diane, Troncoso, Mónica, Gardner, Emily, Mallorens, Francisca, Tavera, Lina, Lizcano, Luis A, Atanacio, Nora, Guelbert, Norberto, Specola, Norma, Mancilla, Nury, Souza, Carolina F M, Mole, Sara E

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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1 von Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J., Farhat, Nicole Y., Do, An Ngoc Dang, Porter, Forbes D., Berry-Kravis, Elizabeth, Reunert, Janine, Marquardt, Thorsten, Giugliani, Roberto, Lourenço, Charles M., Wang, Raymond Y., Movsesyan, Nina, Plummer, Ellen, Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian

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Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry von Civallero, Gabriel, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Poletto, Edina, Faqueti, Larissa, Iop, Gabrielle, Soares, Juliano, van der Linden, Vanessa, van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto

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Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era von Baldo, Manuela Schubert, Nogueira, Célia, Pereira, Cristina, Janeiro, Patrícia, Ferreira, Sara, Lourenço, Charles M., Bandeira, Anabela, Martins, Esmeralda, Magalhães, Marina, Rodrigues, Esmeralda, Santos, Helena, Ferreira, Ana Cristina, Vilarinho, Laura

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Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study von 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.

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Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases von Kubaski, Francyne, Herbst, Zackary M., Pereira, Danilo A.A., Silva, Camilo, Chen, Christine, Hwu, Paul W.L., van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto

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Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America von Politei, Juan M., Gordillo-González, Gisel, Guelbert, Norberto B., de Souza, Carolina F. Moura, Lourenço, Charles M., Solano, Martha L., Junqueira, Mariana M., Magalhães, Tatiana S.P.C., Martins, Ana M.

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Challenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion von Santos, Raul D., Lorenzatti, Alberto, Corral, Pablo, Nogueira, Juan Patricio, Cafferata, Alberto M., Aimone, Daniel, Lourenço, Charles M., Izar, Maria Cristina, Lima, Josivan G., Lottenberg, Ana Maria, Alonso, Rodrigo, Garay, Karla, Morales, Alvaro Ruiz, Vargas-Uricoechea, Hernando, Peña, Christian A. Colón, Roman-González, Alejandro

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High glucose level as a modifier factor in CMT1A patients von Secchin, Juliana B., Leal, Rita C. C., Lourenço, Charles M., Marques, V. D., Nogueira, Patricia T. L., Santos, Andre C. J., Tomaselli, Pedro J., Marques, Wilson

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Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4] von Kubaski, Francyne, Herbst, Zackary M., Pereira, Danilo A.A., Silva, Camilo, Chen, Christine, Hwu, Paul W.L., van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto

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Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectro... von Civallero, Gabriel, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Poletto, Edina, Faqueti, Larissa, Iop, Gabrielle, Soares, Juliano, van der Linden, Vanessa, van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto

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New novel mutations in Brazilian families with X‐linked Charcot‐Marie‐Tooth disease von Gouvea, Silmara P., Tomaselli, Pedro J., Barretto, Luiza S., Perina, Keity C. B., Nyshyama, Fulviana S., Nicolau, Nilson, Lourenço, Charles M., Marques, Wilson

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