Mucolipidosis type II and type III: a systematic review of 843 published cases
Dogterom, Emma J, Wagenmakers, Margreet A E M, Wilke, Martina, Demirdas, Serwet, Muschol, Nicole M, Pohl, Sandra, Meijden, Jan C van der, Rizopoulos, Dimitris, Ploeg, Ans T van der, Oussoren, Esmée
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
Hennermann, Julia B, Guffon, Nathalie, Cattaneo, Federica, Ceravolo, Ferdinando, Borgwardt, Line, Lund, Allan M, Gil-Campos, Mercedes, Tylki-Szymanska, Anna, Muschol, Nicole M
Published in Orphanet journal of rare diseases (29.09.2020)
Published in Orphanet journal of rare diseases (29.09.2020)
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Journal Article
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Muschol, Nicole M, Pape, Daniel, Kossow, Kai, Ullrich, Kurt, Arash-Kaps, Laila, Hennermann, Julia B, Stücker, Ralf, Breyer, Sandra R
Published in Orphanet journal of rare diseases (02.05.2019)
Published in Orphanet journal of rare diseases (02.05.2019)
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Journal Article
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Köhn, Anja F., Grigull, Lorenz, du Moulin, Marcel, Kabisch, Sarah, Ammer, Luise, Rudolph, Cornelia, Muschol, Nicole M.
Published in Molecular genetics and metabolism reports (01.06.2020)
Published in Molecular genetics and metabolism reports (01.06.2020)
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Journal Article
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study
Dohrmann, Thorsten, Muschol, Nicole M., Sehner, Susanne, Punke, Mark A., Haas, Sebastian A., Roeher, Katharina, Breyer, Sandra, Koehn, Anja F., Ullrich, Kurt, Zöllner, Christian, Petzoldt, Martin, Veyckemans, Francis
Published in Pediatric anesthesia (01.02.2020)
Published in Pediatric anesthesia (01.02.2020)
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Journal Article
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo, Giorgia, Westermann, Lena M, Yorgan, Timur A, Stürznickel, Julian, Ludwig, Nataniel F, Ammer, Luise S, Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R, Board, Tim N, Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N, Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P, Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M, Schwartz, Ida V D, Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article
Experiences and challenges of pregnancies in a patient with mucolipidosis type III
Aries, Charlotte, Lindschau, Mona, Rudolph, Cornelia, Muschol, Nicole M.
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene
Förster, Luise, Tiede, Stephan, Rudolph, Cornelia, Muschol, Nicole M.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Hip dysplasia in Hurler syndrome: A retrospective analysis of longitudinal data from neonatal hip screening to long-term follow-up
Quitmann, Christina M., Breyer, Sandra R., Lindschau, Mona, Rudolph, Cornelia, Muschol, Nicole M.
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Development of a suspicion index tool to aid diagnosis of ASMD disease
Wiesinger, Anna-Maria, Lauth, Wanda, Giugliani, Roberto, Muschol, Nicole M., Aries, Charlotte, Moeslinger, Dorothea, Mengel, Eugen, Weghuber, Daniel, Lagler, Florian
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Neurocognitive development and adaptive behavior in mucolipidosis type II: A retrospective analysis of 11 patients
Ammer, Luise S., Täuber, Karolin, Perez, Anna, Santer, René, Dohrmann, Thorsten, Muschol, Nicole M.
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE registry
Muschol, Nicole M., Guffon, Nathalie, Ballabeni, Andrea, Borgwardt, Line, Lund, Allan, Gil-Campos, Mercedes, Dona, Francesca, Hennermann, Julia B.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE registry
Guffon, Nathalie, Muschol, Nicole M., Ballabeni, Andrea, Borgwardt, Line, Lund, Allan, Gil-Campos, Mercedes, Dona, Francesca, Hennermann, Julia B.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Survival, cardiac, and pulmonary outcomes in individuals with attenuated MPS I receiving laronidase enzyme replacement therapy: Data from the MPS I Registry
Ghosh, Arunabha, Giugliani, Roberto, Clarke, Lorne A., Muschol, Nicole M., Jones, Simon A., Batista, Julie L., Flores, Ana Lorena, Wilson, Kathryn, Muenzer, Joseph
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Alpha-mannosidosis international caregiver and patient survey: Changes in mobility, pain or discomfort, and patients' self-care over time
Guffon, Nathalie, Lampe, Christina, Muschol, Nicole M., Dona, Francesca, Ballabeni, Andrea, Koulinska, Irene, Lopez-Rodriguez, Monica, Barth, Anneliese, Stepien, Karolina M.
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Disease manifestations in mucopolysaccharidoses and their impact on anaesthesia-related complications: A retrospective analysis of 99 patients
Ammer, Luise S., Muschol, Nicole M., Lang, Annika, Breyer, Sandra R., Ozga, Ann-Kathrin, Petzoldt, Martin, Dohrmann, Thorsten
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome
O'Neill, Cara, Giugliani, Roberto, Jones, Simon, Muenzer, Joseph, Smith, Nicholas, Whitley, Chester B., Donnell, Megan, Drake-Esposito, Elise, Elvidge, Kristina, Melton, Lisa, Muschol, Nicole M.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
A phase I/II clinical trial of JR-441 for treatment of Sanfilippo syndrome type A (MPS IIIA)
Muschol, Nicole M., Lindschau, Mona, Quitmann, Christina, Hufschmidt, Johannes, O'Neill, Cara, van den Akker, Hanneke, Claros, Maria Angelica Cordoba, Kobayashi, Minako, Kawashima, Satoshi, Tanizawa, Kazunori, Schmidt, Mathias, Sato, Yuji, Kamitani, Ami
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
Muschol, Nicole M., Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica, Jayakar, Parul, Lund, Allan, Tal, Galit, Garcia, Jose E., Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara, Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian, Scarpa, Maurizio, Sutton, V. Reid, Guffon, Nathalie
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article