Skip to contents Hohlfeld, Simone [Author] ; Spiekerkötter, Ute [Other]; vom Dahl, Stephan [Other] Klinische Präsentation und Langzeitoutcome von Patienten mit Harnstoffzyklusdefekten Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2023 Grünert, Sarah [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Freiburg: Universität, 2022 Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author] The phenotypic and genetic spectrum of glycogen storage disease type VI Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Genes ; 12, 8 (2021), 1205 Mayorandan, Sebene [Author]; Spiekerkötter, Ute [Author]; Das, Anibh Martin [Author] Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2014 Published in: Orphanet journal of rare diseases ; 9 (2014), 107 Grohmann-Held, Karina [Author]; Rosenbaum-Fabian, Stefanie [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2022 Published in: Journal of inherited metabolic disease ; 45, 6 (2022), 1070-1081 Mütze, Ulrike [Author]; Grünert, Sarah [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Newborn screening and disease variants predictneurological outcome in isovaleric aciduria Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 857-870 Alatibi, Khaled [Author]; Wehbe, Zeinab [Author]; Spiekerkötter, Ute [Author]; Tucci, Sara [Author] Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2020 Published in: The FEBS journal ; 287, 16 (2020), 3511-3525 Myszkowska, Joanna [Author]; Dereven’kov, Ilia A. [Author]; Makarov, Sergei V. [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author] Biosynthesis, quantification and genetic diseases of the smallest signaling thiol metabolite: Hydrogen sulfide Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI AG, 2021 Published in: Antioxidants ; 10, 7 (2021), 1065 Heard, Jean-Michel [Author]; Bellettato, Cinzia [Author]; Lingen, Corine van [Author]; Scarpa, Maurizio [Author]; Spiekerkötter, Ute [Author] Research activity and capability in the European reference network MetabERN Books View online Schließen > Access ... to E-book (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2019 Published in: Orphanet journal of rare diseases ; 14,1 (2019), 119 Garbade, Sven [Author]; Ederer, Viviane [Author]; Burgard, Peter [Author]; Wendel, Udo [Author]; Spiekerkötter, Ute [Author]; Haas, Dorothea [Author]; Grünert, Sarah [Author] Impact of glycogen storage disease type I on adult daily life: a survey Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2021 Published in: Orphanet journal of rare diseases ; 16 (2021), 371 Grünert, Sarah [Author]; Eckenweiler, Matthias [Author]; Haas, Dorothea [Author]; Lindner, Martin [Author]; Tsiakas, Konstantinos [Author]; Santer, René [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author] The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 893-902 Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Successful pregnancy in a woman with glycogen storage disease type 6 Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Amsterdam: Elsevier, 2021 Published in: Molecular genetics and metabolism reports ; 27 (2021), 100770 Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Three successful pregnancies in a patient with glycogen storage disease type 0 Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: JIMD reports ; 57, 1 (2021), 38-43 Basgalupp, Suelen Porto [Author]; Siebert, Marina [Author]; Ferreira, Charles [Author]; Behringer, Sidney [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author]; Schwartz, Ida Vanessa [Author] Assessment of cellular cobalamin metabolism in Gaucher disease Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Verlagsort: Verlag, 2020 Published in: BMC medical genetics ; 21, 1 (2020), 12 Hannibal, Luciana [Author]; Theimer, Jule [Author]; Wingert, Victoria [Author]; Klotz, Katharina [Author]; Bierschenk, Iris [Author]; Nitschke, Roland [Author]; Spiekerkötter, Ute [Author]; Grünert, Sarah [Author] Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Lausanne: Frontiers Research Foundation, 2020 Published in: Frontiers in endocrinology ; 11 (2020), 579981 Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Schumann, Anke [Author]; Schwab, Karl Otfried [Author]; Mingirulli, Nadja [Author]; Spiekerkötter, Ute [Author] Successful pregnancy in maple syrup urine disease : a case report and review of the literature Books View online Schließen > Access ... to E-book via Resolving system (Volltext ; freely accessible) (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2018 Published in: Nutrition journal ; 17 (2018), 51 Grünert, Sarah [Author]; Wehrle, Anika [Author]; Villavicencio Lorini, Pablo [Author]; Lausch, Ekkehart [Author]; Schwab, Karl Otfried [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author] Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening Books View online Schließen > Access ... to E-book via Resolving system (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2015 Published in: BMC medical genetics ; 16 (2015), 56 Alatibi, Khaled [Author]; Hagenbuchner, Judith [Author]; Wehbe, Zeinab [Author]; Karall, Daniela [Author]; Ausserlechner, Michael J. [Author]; Vockley, Jerry [Author]; Spiekerkötter, Ute [Author]; Grünert, Sarah [Author]; Tucci, Sara [Author] Different lipid signature in fibroblasts of long-chain fatty acid oxidation disorders Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Cells ; 10, 5 (2021), 1239 Schüle, Isabel [Author]; Berger, Urs [Author]; Matysiak, Uta [Author]; Ruzaike, Gunda [Author]; Stiller, Brigitte [Author]; Pohl, Martin [Author]; Spiekerkötter, Ute [Author]; Lausch, Ekkehart [Author]; Grünert, Sarah [Author]; Schmidts, Miriam [Author] A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Genes ; 12, 6 (2021), 879 Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Rosenbaum-Fabian, Stefanie [Author]; Beck-Wödl, Stefanie [Author]; Haack, Tobias [Author]; Grimmel, Mona [Author]; Bertrand, Miriam [Author]; Spiekerkötter, Ute [Author] Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Diagnostics ; 11, 3 (2021), 500
Hohlfeld, Simone [Author] ; Spiekerkötter, Ute [Other]; vom Dahl, Stephan [Other] Klinische Präsentation und Langzeitoutcome von Patienten mit Harnstoffzyklusdefekten Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2023
Grünert, Sarah [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Freiburg: Universität, 2022
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Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author] The phenotypic and genetic spectrum of glycogen storage disease type VI Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Genes ; 12, 8 (2021), 1205
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Mayorandan, Sebene [Author]; Spiekerkötter, Ute [Author]; Das, Anibh Martin [Author] Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2014 Published in: Orphanet journal of rare diseases ; 9 (2014), 107
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Grohmann-Held, Karina [Author]; Rosenbaum-Fabian, Stefanie [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2022 Published in: Journal of inherited metabolic disease ; 45, 6 (2022), 1070-1081
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Mütze, Ulrike [Author]; Grünert, Sarah [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Newborn screening and disease variants predictneurological outcome in isovaleric aciduria Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 857-870
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Alatibi, Khaled [Author]; Wehbe, Zeinab [Author]; Spiekerkötter, Ute [Author]; Tucci, Sara [Author] Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2020 Published in: The FEBS journal ; 287, 16 (2020), 3511-3525
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Myszkowska, Joanna [Author]; Dereven’kov, Ilia A. [Author]; Makarov, Sergei V. [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author] Biosynthesis, quantification and genetic diseases of the smallest signaling thiol metabolite: Hydrogen sulfide Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI AG, 2021 Published in: Antioxidants ; 10, 7 (2021), 1065
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Heard, Jean-Michel [Author]; Bellettato, Cinzia [Author]; Lingen, Corine van [Author]; Scarpa, Maurizio [Author]; Spiekerkötter, Ute [Author] Research activity and capability in the European reference network MetabERN Books View online Schließen > Access ... to E-book (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2019 Published in: Orphanet journal of rare diseases ; 14,1 (2019), 119
Garbade, Sven [Author]; Ederer, Viviane [Author]; Burgard, Peter [Author]; Wendel, Udo [Author]; Spiekerkötter, Ute [Author]; Haas, Dorothea [Author]; Grünert, Sarah [Author] Impact of glycogen storage disease type I on adult daily life: a survey Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2021 Published in: Orphanet journal of rare diseases ; 16 (2021), 371
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Grünert, Sarah [Author]; Eckenweiler, Matthias [Author]; Haas, Dorothea [Author]; Lindner, Martin [Author]; Tsiakas, Konstantinos [Author]; Santer, René [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author] The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 893-902
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Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Successful pregnancy in a woman with glycogen storage disease type 6 Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Amsterdam: Elsevier, 2021 Published in: Molecular genetics and metabolism reports ; 27 (2021), 100770
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Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Three successful pregnancies in a patient with glycogen storage disease type 0 Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: JIMD reports ; 57, 1 (2021), 38-43
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Basgalupp, Suelen Porto [Author]; Siebert, Marina [Author]; Ferreira, Charles [Author]; Behringer, Sidney [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author]; Schwartz, Ida Vanessa [Author] Assessment of cellular cobalamin metabolism in Gaucher disease Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Verlagsort: Verlag, 2020 Published in: BMC medical genetics ; 21, 1 (2020), 12
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Hannibal, Luciana [Author]; Theimer, Jule [Author]; Wingert, Victoria [Author]; Klotz, Katharina [Author]; Bierschenk, Iris [Author]; Nitschke, Roland [Author]; Spiekerkötter, Ute [Author]; Grünert, Sarah [Author] Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Lausanne: Frontiers Research Foundation, 2020 Published in: Frontiers in endocrinology ; 11 (2020), 579981
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Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Schumann, Anke [Author]; Schwab, Karl Otfried [Author]; Mingirulli, Nadja [Author]; Spiekerkötter, Ute [Author] Successful pregnancy in maple syrup urine disease : a case report and review of the literature Books View online Schließen > Access ... to E-book via Resolving system (Volltext ; freely accessible) (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2018 Published in: Nutrition journal ; 17 (2018), 51
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Grünert, Sarah [Author]; Wehrle, Anika [Author]; Villavicencio Lorini, Pablo [Author]; Lausch, Ekkehart [Author]; Schwab, Karl Otfried [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author] Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening Books View online Schließen > Access ... to E-book via Resolving system (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2015 Published in: BMC medical genetics ; 16 (2015), 56
Alatibi, Khaled [Author]; Hagenbuchner, Judith [Author]; Wehbe, Zeinab [Author]; Karall, Daniela [Author]; Ausserlechner, Michael J. [Author]; Vockley, Jerry [Author]; Spiekerkötter, Ute [Author]; Grünert, Sarah [Author]; Tucci, Sara [Author] Different lipid signature in fibroblasts of long-chain fatty acid oxidation disorders Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Cells ; 10, 5 (2021), 1239
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Schüle, Isabel [Author]; Berger, Urs [Author]; Matysiak, Uta [Author]; Ruzaike, Gunda [Author]; Stiller, Brigitte [Author]; Pohl, Martin [Author]; Spiekerkötter, Ute [Author]; Lausch, Ekkehart [Author]; Grünert, Sarah [Author]; Schmidts, Miriam [Author] A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome Books View online Schließen > Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Genes ; 12, 6 (2021), 879
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Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Rosenbaum-Fabian, Stefanie [Author]; Beck-Wödl, Stefanie [Author]; Haack, Tobias [Author]; Grimmel, Mona [Author]; Bertrand, Miriam [Author]; Spiekerkötter, Ute [Author] Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families Books View online Schließen > Access ... to E-book via Resolving system (freely accessible) ... to E-book via DOI (freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Diagnostics ; 11, 3 (2021), 500
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