C. Kranz

发表

CDG‐Id in two siblings with partially different phenotypes

H. Freeze, E. Eklund, D. Krasnewich, 2007, American journal of medical genetics. Part A.

COG8 deficiency causes new congenital disorder of glycosylation type IIh.

H. Freeze, E. Eklund, B. G. Ng, 2007, Human molecular genetics.

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

H. Freeze, B. G. Ng, M. Durán, 2007, Molecular genetics and metabolism.

Agm1/Pgm3-Mediated Sugar Nucleotide Synthesis Is Essential for Hematopoiesis and Development

H. Freeze, M. Bahlo, W. Alexander, 2007, Molecular and Cellular Biology.

Expanding spectrum of congenital disorder of glycosylation Ig (CDG‐Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

H. Freeze, C. Powell, A. Aylsworth, 2007, American journal of medical genetics. Part A.

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

H. Freeze, C. Kranz, 2010, Current protocols in immunology.

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

H. Freeze, C. Kranz, 2010, Current protocols in protein science.

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

H. Freeze, C. Kranz, 2008, Current protocols in immunology.

Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides

H. Freeze, C. Kranz, 1999, Current protocols in protein science.

Congenital Disorder of Glycosylation Type Id: Clinical Phenotype, Molecular Analysis, Prenatal Diagnosis, and Glycosylation of Fetal Proteins

J. Denecke, T. Marquardt, P. Herkenrath, 2005, Pediatric Research.

cycloSaligenyl-mannose-1-monophosphates as a New Strategy in CDG-Ia Therapy: Hydrolysis, Mechanistic Insights and Biological Activity

T. Marquardt, C. Meier, C. Kranz, 2004 .

Membrane-permeant derivatives of mannose-1-phosphate.

T. Marquardt, J. Thiem, C. Kranz, 2002, Bioorganic & medicinal chemistry.

An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense‐mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG‐Id)

J. Denecke, T. Marquardt, H. Koch, 2004, Human mutation.

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson‐Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

J. Denecke, R. Auchus, H. Robenek, 2006, Human mutation.

Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)

H. Heimpel, J. Denecke, T. Marquardt, 2008, Glycoconjugate Journal.

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

R. Rossi, J. Denecke, F. Meinhardt, 2004, American journal of human genetics.

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.

J. Denecke, T. Marquardt, G. Hammersen, 2007, American journal of human genetics.

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

H. Freeze, C. Kranz, 2010, Current protocols in molecular biology.

Hypoglycosylation due to dolichol metabolism defects.

J. Denecke, C. Kranz, 2009, Biochimica et biophysica acta.

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

H. Freeze, J. Peter-Katalinic, J. Denecke, 2001, The Journal of clinical investigation.