Search Results - "Demuth, Laura"

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease by Hurvitz, Noa, Dinur, Tama, Becker-Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Abramov, Aya, Zimran, Ari, Revel-Vilk, Shoshana

“…The role of glucosylsphingosine (lyso-Gb1), a downstream metabolic product of glucosylceramide, for monitoring treated and untreated children with Gaucher…”
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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome by Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A, Alhashem, Amal M, Ben-Omran, Tawfeg, Mahmoud, Iman G, Al Menabawy, Nihal M, Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt

“…Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It…”
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Ganglioside quantification in dried blood spots: A potential biochemical tool to diagnose and monitor metabolic and neurodegenerative diseases by Fischer, Steffen, Iurascu, Marius I., Demuth, Laura, Bauer, Peter

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Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations - data from a large global cohort by Cozma, Claudia, Zielke, Susanne, Iurascu, Marius, Demuth, Laura, Rolfs, Arndt

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Hyaline fibromatosis syndrome: Genetic, clinical and biochemical characterization of a large cohort of patients by Cozma, Claudia, Hovakymian, Marina, Iurascu, Marius I., Demuth, Laura, Beetz, Christian, Bauer, Peter, Rolfs, Arndt

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Glucosylsphingosine for the screening, diagnosis, monitoring and prediction in Gaucher disease by Cozma, Claudia, Beetz, Christian, Demuth, Laura, Hovakymian, Marina, Oppermann, Sebastian, Rolfs, Arndt

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Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders by Rizzi, Susanna, Spagnoli, Carlotta, Bellini, Melissa, Cesaroni, Carlo Alberto, Spezia, Elisabetta, Bergonzini, Patrizia, Caramaschi, Elisa, Soliani, Luca, Turco, Emanuela Claudia, Piccolo, Benedetta, Demuth, Laura, Cordelli, Duccio Maria, Biasucci, Giacomo, Frattini, Daniele, Fusco, Carlo

“…Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants…”
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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene by Bertoli-Avella, Aida, Hotakainen, Ronja, Al Shehhi, Maryam, Urzi, Alice, Pareira, Catarina, Marais, Anett, Al Shidhani, Khoula, Aloraimi, Sumaya, Morales-Torres, Galina, Fisher, Steffen, Demuth, Laura, Moteleb Selim, Laila Abdel, Al Menabawy, Nihal, Busehail, Maryam, AlShaikh, Mohammed, Gilani, Naser, Chalabi, Dler Nooruldeen, Alharbi, Nasser S, Alfadhel, Majid, Abdelrahman, Mohammed, Venselaar, Hanka, Anjum, Nadeem, Saeed, Anjum, Alghamdi, Malak Ali, Aljaedi, Hamad, Arabi, Hisham, Karageorgou, Vasiliki, Khan, Suliman, Hajjari, Zahra, Radefeldt, Mandy, Al-Ali, Ruslan, Tripolszki, Kornelia, Jamhawi, Amer, Paknia, Omid, Cozma, Claudia, Cheema, Huma, Ameziane, Najim, Al-Muhsen, Saleh, Bauer, Peter

“…We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause. Exome/genome sequencing and human phenotype…”
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Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease by Dinur, Tama, Zimran, Ari, Becker-Cohen, Michal, Arkadir, David, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Revel-Vilk, Shoshana

“…The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1) was a revolution in the management of patients, but not without…”
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The Chamber Cantatas of Antonio Vivaldi by Demuth, Laura

“…For a composer who has experienced both a tremendous popular modern revival and whose instrumental music influenced contemporary composers such as Johann…”
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Book Reviews: Eighteenth-Century Studies - "The Chamber Cantatas of Antonio Vivaldi," by Michael Talbot by Demuth, Laura

“…A book-length study of the 37 existing cantatas by Antonio Vivaldi is reviewed (Boydell Press, 2006)…”
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