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You search for a phrase ""Molecular Genetics and Metabolism"" according to the criterion: JN

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Showing 1-20 from 18648 results
Title:
Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations
Authors:
Reischl-Hajiabadi, Anna T.
Okun, Jürgen G.
Kohlmüller, Dirk
Manukjan, Georgi
Hegert, Sebastian
Durner, Jürgen
Schuhmann, Elfriede
Hörster, Friederike
Mütze, Ulrike
Feyh, Patrik
Hoffmann, Georg F.
Röschinger, Wulf
Janzen, Nils
Opladen, Thomas
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Source:
In Molecular Genetics and Metabolism March 2024 141(3)
Academic Journal
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Title:
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Authors:
Grünert, Sarah C.
Derks, Terry G.J.
Mundy, Helen
Dalton, R. Neil
Donadieu, Jean
Hofbauer, Peter
Jones, Neil
Uçar, Sema Kalkan
LaFreniere, Jamas
Contreras, Enrique Landelino
Pendyal, Surekha
Rossi, Alessandro
Schneider, Blair
Spiegel, Ronen
Stepien, Karolina M.
Wesol-Kucharska, Dorota
Veiga-da-Cunha, Maria
Wortmann, Saskia B.
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Source:
In Molecular Genetics and Metabolism March 2024 141(3)
Academic Journal
Details
Title:
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial
Authors:
Toscano, Antonio
Pollissard, Laurence
Msihid, Jérôme
van der Beek, Nadine
Kishnani, Priya S.
Dimachkie, Mazen M.
Berger, Kenneth I.
DasMahapatra, Pronabesh
Thibault, Nathan
Hamed, Alaa
Zhou, Tianyue
Haack, Kristina An
Schoser, Benedikt
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Source:
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
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Title:
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients
Authors:
Trefz, Friedrich
Frauendienst-Egger, Georg
Dienel, Gerald
Cannet, Claire
Schmidt-Mader, Brigitte
Haas, Dorothea
Blau, Nenad
Himmelreich, Nastassja
Spraul, Manfred
Freisinger, Peter
Dobrowolski, Steven
Berg, Daniela
Pilotto, Andrea
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Source:
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
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Showing 1-20 from 18648 results

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