Skip to contents Nagy, Sara [Author]; Lau, Tracy [Author]; Alavi, Shahryar [Author]; Karimiani, Ehsan Ghayoor [Author]; Vallian, Jalal [Author]; Ng, Bobby G. [Author]; Noroozi Asl, Samaneh [Author]; Akhondian, Javad [Author]; Bahreini, Amir [Author]; Yaghini, Omid [Author]; Uapinyoying, Prech [Author]; Boennemann, Carsten G. [Author]; Freeze, Hudson H. [Author]; Dissanayake, Vajira H. W. [Author]; Sirisena, Nirmala D. [Author]; Schmidts, Miriam [Author]; Houlden, Henry [Author]; Moreno‐De‐Luca, Andres [Author]; Maroofian, Reza [Author] A recurrent homozygous missense DPM3 variant leads to muscle and brain 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. Oxford: Wiley, 2022 Published in: Clinical genetics ; 102, 6 (2022), 530-536 Freeze, Hudson H. Improving biochemical markers for disorders of N-glycosylation Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. AME Publishing Company, 2019 Published in: Annals of Translational Medicine, 7 (2019) S6, Seite S176-S176 Freeze, Hudson H. XMEN: welcome to the glycosphere Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Society for Clinical Investigation, 2019 Published in: Journal of Clinical Investigation, 130 (2019) 1, Seite 80-82 Freeze, Hudson H Perhaps a wee bit of sugar would help Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2016 Published in: Nature Genetics, 48 (2016) 7, Seite 705-707 Freeze, Hudson H. Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2013 Published in: Journal of Biological Chemistry, 288 (2013) 10, Seite 6936-6945 Freeze, Hudson H. Achondrogenesis Type 1A — From Mouse to Human Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Massachusetts Medical Society, 2010 Published in: New England Journal of Medicine, 362 (2010) 3, Seite 266-267 Freeze, Hudson H. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2009 Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1792 (2009) 9, Seite 835-840 Freeze, Hudson H. Erratum: Genetic defects in the human glycome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2006 Published in: Nature Reviews Genetics, 7 (2006) 8, Seite 660-660 Freeze, Hudson H. Genetic defects in the human glycome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2006 Published in: Nature Reviews Genetics, 7 (2006) 7, Seite 537-551 Freeze, Hudson H. Congenital Disorders of Glycosylation and the Pediatric Liver Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Georg Thieme Verlag KG, 2001 Published in: Seminars in Liver Disease, 21 (2001) 4, Seite 501-516 Freeze, Hudson H. Sweet solution Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Rockefeller University Press, 2002 Published in: The Journal of Cell Biology, 158 (2002) 4, Seite 615-616 Freeze, Hudson H. Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2000 Published in: Current Protocols in Protein Science, 22 (2000) 1 Freeze, Hudson H. Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Current Protocols in Molecular Biology, 48 (1999) 1 Freeze, Hudson H. Human Glycosylation Disorders and Sugar Supplement Therapy Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1999 Published in: Biochemical and Biophysical Research Communications, 255 (1999) 2, Seite 189-193 Freeze, Hudson H. New Diagnosis and Treatment of Congenital Hepatic Fibrosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Journal of Pediatric Gastroenterology & Nutrition, 29 (1999) 1, Seite 104-106 Freeze, Hudson H. New Diagnosis and Treatment of Congenital Hepatic Fibrosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Journal of Pediatric Gastroenterology and Nutrition, 29 (1999) 1, Seite 104-106 Freeze, Hudson H. Use of Glycosidases to Study Protein Trafficking Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Current Protocols in Cell Biology, 3 (1999) 1 Freeze, Hudson H. Disorders in protein glycosylation and potential therapy: Tip of an iceberg? Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1998 Published in: The Journal of Pediatrics, 133 (1998) 5, Seite 593-600 Freeze, Hudson H. Analysis of Sulfate Esters by Solvolysis or Hydrolysis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1995 Published in: Current Protocols in Molecular Biology, 32 (1995) 1 Freeze, Hudson H. Lectin Analysis of Proteins Blotted onto Filters Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1993 Published in: Current Protocols in Molecular Biology, 23 (1993) 1
Nagy, Sara [Author]; Lau, Tracy [Author]; Alavi, Shahryar [Author]; Karimiani, Ehsan Ghayoor [Author]; Vallian, Jalal [Author]; Ng, Bobby G. [Author]; Noroozi Asl, Samaneh [Author]; Akhondian, Javad [Author]; Bahreini, Amir [Author]; Yaghini, Omid [Author]; Uapinyoying, Prech [Author]; Boennemann, Carsten G. [Author]; Freeze, Hudson H. [Author]; Dissanayake, Vajira H. W. [Author]; Sirisena, Nirmala D. [Author]; Schmidts, Miriam [Author]; Houlden, Henry [Author]; Moreno‐De‐Luca, Andres [Author]; Maroofian, Reza [Author] A recurrent homozygous missense DPM3 variant leads to muscle and brain 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. Oxford: Wiley, 2022 Published in: Clinical genetics ; 102, 6 (2022), 530-536
> Access ... to E-book via DOI (freely accessible) ... to E-book via Resolving system (freely accessible)
Freeze, Hudson H. Improving biochemical markers for disorders of N-glycosylation Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. AME Publishing Company, 2019 Published in: Annals of Translational Medicine, 7 (2019) S6, Seite S176-S176
Freeze, Hudson H. XMEN: welcome to the glycosphere Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Society for Clinical Investigation, 2019 Published in: Journal of Clinical Investigation, 130 (2019) 1, Seite 80-82
Freeze, Hudson H Perhaps a wee bit of sugar would help Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2016 Published in: Nature Genetics, 48 (2016) 7, Seite 705-707
Freeze, Hudson H. Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2013 Published in: Journal of Biological Chemistry, 288 (2013) 10, Seite 6936-6945
Freeze, Hudson H. Achondrogenesis Type 1A — From Mouse to Human Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Massachusetts Medical Society, 2010 Published in: New England Journal of Medicine, 362 (2010) 3, Seite 266-267
Freeze, Hudson H. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2009 Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1792 (2009) 9, Seite 835-840
Freeze, Hudson H. Erratum: Genetic defects in the human glycome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2006 Published in: Nature Reviews Genetics, 7 (2006) 8, Seite 660-660
Freeze, Hudson H. Genetic defects in the human glycome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2006 Published in: Nature Reviews Genetics, 7 (2006) 7, Seite 537-551
Freeze, Hudson H. Congenital Disorders of Glycosylation and the Pediatric Liver Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Georg Thieme Verlag KG, 2001 Published in: Seminars in Liver Disease, 21 (2001) 4, Seite 501-516
Freeze, Hudson H. Sweet solution Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Rockefeller University Press, 2002 Published in: The Journal of Cell Biology, 158 (2002) 4, Seite 615-616
Freeze, Hudson H. Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2000 Published in: Current Protocols in Protein Science, 22 (2000) 1
Freeze, Hudson H. Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Current Protocols in Molecular Biology, 48 (1999) 1
Freeze, Hudson H. Human Glycosylation Disorders and Sugar Supplement Therapy Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1999 Published in: Biochemical and Biophysical Research Communications, 255 (1999) 2, Seite 189-193
Freeze, Hudson H. New Diagnosis and Treatment of Congenital Hepatic Fibrosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Journal of Pediatric Gastroenterology & Nutrition, 29 (1999) 1, Seite 104-106
Freeze, Hudson H. New Diagnosis and Treatment of Congenital Hepatic Fibrosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Journal of Pediatric Gastroenterology and Nutrition, 29 (1999) 1, Seite 104-106
Freeze, Hudson H. Use of Glycosidases to Study Protein Trafficking Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1999 Published in: Current Protocols in Cell Biology, 3 (1999) 1
Freeze, Hudson H. Disorders in protein glycosylation and potential therapy: Tip of an iceberg? Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1998 Published in: The Journal of Pediatrics, 133 (1998) 5, Seite 593-600
Freeze, Hudson H. Analysis of Sulfate Esters by Solvolysis or Hydrolysis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1995 Published in: Current Protocols in Molecular Biology, 32 (1995) 1
Freeze, Hudson H. Lectin Analysis of Proteins Blotted onto Filters Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1993 Published in: Current Protocols in Molecular Biology, 23 (1993) 1
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