Результати пошуку - K. Harzer

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  1. 1
    Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

    Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis за авторством Konrad Sandhoff, K. Harzer

    Опубліковано 2013
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    Revisão
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  2. 2
    Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.

    Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. за авторством Hans Holtschmidt, Konrad Sandhoff, H Y Kwon, K. Harzer, Takeshi Nakano, Kotaro Suzuki

    Опубліковано 1991
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    Artigo
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  3. 3
    Acidic Sphingomyelinase Mediates Entry of N. gonorrhoeae into Nonphagocytic Cells

    Acidic Sphingomyelinase Mediates Entry of N. gonorrhoeae into Nonphagocytic Cells за авторством Heike Grassmé, Erich Gulbins, Birgit Brenner, Klaus Ferlinz, Konrad Sandhoff, K. Harzer, Florian Läng, Thomas F. Meyer

    Опубліковано 1997
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    Artigo
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  4. 4
    Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

    Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and... за авторством Gilles Millat, Christophe Marçais, Catherine Tomasetto, Karim Chikh, Anthony H. Fensom, K. Harzer, David A. Wenger, Kinji Ohno, Marie T. Vanier

    Опубліковано 2001
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    Artigo
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  5. 5
    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)? за авторством Stefanie Beck‐Wödl, K. Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, E. Latta, Axel Pagenstecher, Ursula Keber

    Опубліковано 2018
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    Artigo
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  6. 6
    Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.

    Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. за авторством Dirk Schnabel, Maria Schröder, Werner Fürst, Andreas Klein, Robert Hurwitz, Thomas S. Zenk, Juliane Weber, K. Harzer, Barbara C. Paton, A. Poulos

    Опубліковано 1992
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    Artigo
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  7. 7
    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges за авторством Vidiyaah Santhanakumaran, Samuel Groeschel, K. Harzer, Christiane Kehrer, Saskia Elgün, Stefanie Beck‐Wödl, Holger Hengel, Lüdger Schöls, Tobias B. Haack, Ingeborg Krägeloh‐Mann, Lucia Laugwitz

    Опубліковано 2022
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  8. 8
    Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

    Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying... за авторством Ladislav Kuchař, J. Ledvinová, Martin Hřebı́ček, Helena Myšková, Lenka Dvořáková, Linda Berná, Petr Chrastina, Befekadu Asfaw, M. Elleder, Margret Petermöller, Heidi Mayrhofer, Martin Staudt, Ingeborg Krägeloh‐Mann, Barbara C. Paton, K. Harzer

    Опубліковано 2009
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  9. 9
    Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

    Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease за авторством Laura Adang, Lars Schlotawa, Samuel Groeschel, Christiane Kehrer, K. Harzer, Orna Staretz‐Chacham, Thiago Oliveira Silva, Ida Vanessa Döederlein Schwartz, Jutta Gärtner, Mauricio De Castro, Carrie Costin, Esperanza Font–Montgomery, Thomas Dierks, Karthikeyan Radhakrishnan, Rebecca C. Ahrens‐Nicklas

    Опубліковано 2020
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