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

The Journal of clinical investigation, 2001-12, Vol.108 (11), p.1613-1619

2001

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Hypoglycosylation due to dolichol metabolism defects

Biochimica et biophysica acta, 2009-09, Vol.1792 (9), p.888-895

2009

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Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

Current protocols in molecular biology (Print), 2010-01, Vol.89 (1), p.17.13A.1-17.13A.25

2010

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

European journal of organic chemistry, 2004-03, Vol.2004 (6), p.1228-1235

2004

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Evolution on SoC Integration : GSM Baseband-Radio in 0.13 μm CMOS Extended by Fully Integrated Power Management Unit

IEEE journal of solid-state circuits, 2008, Vol.43 (1), p.236-245

2008

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COG8 deficiency causes new congenital disorder of glycosylation type IIh

Human molecular genetics, 2007-04, Vol.16 (7), p.731-741

2007

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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

Human mutation, 2006-06, Vol.27 (6), p.524-531

2006

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Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

Current Protocols in Protein Science, 2010-11, Vol.62 (1), p.12.4.1-12.4.25

2010

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Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I

American journal of human genetics, 2004-03, Vol.74 (3), p.545-551

2004

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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)

Human mutation, 2004-05, Vol.23 (5), p.477-486

2004

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

Glycoconjugate journal, 2008-05, Vol.25 (4), p.375-382

2008

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Congenital disorder of glycosylation type Id : Clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins

Pediatric research, 2005-08, Vol.58 (2), p.248-253

2005

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Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

Current Protocols in Immunology, 2010-04, Vol.89 (1), p.8.15.1-8.15.25

2010

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Membrane-Permeant derivatives of mannose-1-phosphate

Bioorganic & medicinal chemistry, 2002-12, Vol.10 (12), p.4043-4049

2002

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Evolution on SoC Integration: GSM Baseband-Radio in 0.13 \mu} CMOS Extended by Fully Integrated Power Management Unit

IEEE journal of solid-state circuits, 2008-01, Vol.43 (1), p.236-245

2008

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Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

Current Protocols in Immunology, 2008-11, Vol.83 (1), p.8.15.1-8.15.26

2008

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Functionally-Improved Recombinant Antibodies: Moving Toward Higher Levels of Expression

Bioprocessing journal, 2009-10, Vol.8 (3), p.44-50

2009

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cyclo Saligenyl‐mannose‐1‐monophosphates as a New Strategy in CDG‐Ia Therapy: Hydrolysis, Mechanistic Insights and Biological Activity

European journal of organic chemistry, 2004-03, Vol.2004 (6), p.1228-1235

2004

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Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides

Current Protocols in Protein Science, 2006-09, Vol.45 (1), p.12.4.1-12.4.26

2006

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COG8 deficiency causes new congenital disorder of glycosylation type IIlh

Human molecular genetics, 2007, Vol.16 (7), p.731-741

2007

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A GSM Baseband Radio in 0.13μm CMOS with Fully Integrated Power-Management

2007 IEEE International Solid-State Circuits Conference. Digest of Technical Papers, 2007, p.264-602

2007

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Complete digital control method for PWM DCDC boost converter

IEEE 34th Annual Conference on Power Electronics Specialist, 2003. PESC '03, 2003, Vol.2, p.951-956 vol.2

Kranz, C.

2003

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

ChemInform, 2004-06, Vol.35 (26), p.no-no

2004

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Ultra-Low Cost GSM Phones Enabled by Baseband-Radios with Integrated Power-Management

2007 IEEE International Conference on Portable Information Devices, 2007, p.1-5

2007

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

American Journal of Medical Genetics Part A, 2007, Vol.143A (12), p.1371-1378

2007

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

Hypoglycosylation due to dolichol metabolism defects

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

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

Evolution on SoC Integration : GSM Baseband-Radio in 0.13 μm CMOS Extended by Fully Integrated Power Management Unit

COG8 deficiency causes new congenital disorder of glycosylation type IIh

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

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I

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)

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

Congenital disorder of glycosylation type Id : Clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

Membrane-Permeant derivatives of mannose-1-phosphate

Evolution on SoC Integration: GSM Baseband-Radio in 0.13 \mu} CMOS Extended by Fully Integrated Power Management Unit

Endoglycosidase and Glycoamidase Release of N‐Linked Glycans

Functionally-Improved Recombinant Antibodies: Moving Toward Higher Levels of Expression

cyclo Saligenyl‐mannose‐1‐monophosphates as a New Strategy in CDG‐Ia Therapy: Hydrolysis, Mechanistic Insights and Biological Activity

Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides

COG8 deficiency causes new congenital disorder of glycosylation type IIlh

A GSM Baseband Radio in 0.13μm CMOS with Fully Integrated Power-Management

Complete digital control method for PWM DCDC boost converter

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

Ultra-Low Cost GSM Phones Enabled by Baseband-Radios with Integrated Power-Management

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

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