UB Paderborn / Katalog / Suche / in CDI

1 – 24 von 24

Sortiert nach

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

Clinical genetics, 2017-09, Vol.92 (3), p.281-289

2017

Volltextzugriff (PDF)

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.756-759

2012

Volltextzugriff (PDF)

Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults

Canadian journal of neurological sciences, 2013-01, Vol.40 (1), p.3-9

2013

Volltextzugriff (PDF)

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.325-335

2007

Volltextzugriff (PDF)

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus‐mediated expression

Human mutation, 2004-01, Vol.23 (1), p.32-39

2004

Volltextzugriff (PDF)

PIH2 THE COST-EFFECTIVENESS OF EXPANDING NEWBORN SCREENING FOR INHERITED METABOLIC DISORDERS USING TANDEM MASS SPECTROMETRY

Value in health, 2005-05, Vol.8 (3), p.298-298

2005

Volltextzugriff (PDF)

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

Journal of medical genetics, 2001-09, Vol.38 (9), p.615-616

2001

Volltextzugriff (PDF)

The Expanding Spectrum of Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency (Mcadd) from Trait to Lethality: Mcadd Experience Using the Canadian Paediatric Surveillance Program

Paediatrics & child health, 2009-05, Vol.14 (suppl_A), p.26-26A

2009

Volltextzugriff (PDF)

Isolated sulfite oxidase deficiency

Neuropediatrics, 1996-12, Vol.27 (6), p.299

1996

Volltextzugriff (PDF)

Consequences of Aging on Mitochondrial Respiratory Chain Enzymes in Cultured Human Fibroblasts Treated with Ascorbate

Gerontology (Basel), 1998, Vol.44 (2), p.78-84

1998

Volltextzugriff (PDF)

Distribution, metabolism and function of dolichol and polyprenols

Progress in lipid research, 1985, Vol.24 (4), p.269-309

1985

Volltextzugriff (PDF)

Nerve biopsy findings in Niemann-Pick type II (NPC)

Acta neuropathologica, 1994-02, Vol.87 (2), p.149-154

1994

Volltextzugriff (PDF)

Aspartylglucosaminuria in a Canadian family

Clinical and investigative medicine, 1998-06, Vol.21 (3), p.114-123

1998

Volltextzugriff (PDF)

Rat liver lysosome membranes are enriched in alpha-tocopherol

Biochemistry and cell biology, 1992-06, Vol.70 (6), p.486

1992

Volltextzugriff (PDF)

Medium‐chain acyl‐CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome

Journal of inherited metabolic disease, 1995-05, Vol.18 (3), p.365-366

1995

Volltextzugriff (PDF)

Purification and structure of human liver aspartylglucosaminidase

Biochemical journal, 1992-12, Vol.288 (3), p.1005-1010

1992

Volltextzugriff (PDF)

Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver

The Journal of biological chemistry, 1981-02, Vol.256 (4), p.1929-1934

1981

Volltextzugriff (PDF)

Occurrence of dolichol in human tissues

Lipids, 1978-04, Vol.13 (4), p.291-293

1978

Volltextzugriff (PDF)

Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency

Journal of paediatrics and child health, 1993-06, Vol.29 (3), p.237-238

1993

Volltextzugriff (PDF)

Use of a genetic variant to study the hexose transport properties of human skin fibroblasts

Biochemical journal, 1990-02, Vol.265 (3), p.823-829

1990

Volltextzugriff (PDF)

The preparation of rat liver lysosome membranes. Several membrane proteins contain complex oligosaccharides

Biochemistry and cell biology, 1988-04, Vol.66 (4), p.273

1988

Volltextzugriff (PDF)

Glycoprotein biosynthesis in quiescent and stimulated thymocytes and a T-cell lymphoma. The synthesis of high-mannose oligosaccharides

Biochemical journal, 1982-01, Vol.201 (2), p.377-385

1982

Volltextzugriff (PDF)

Analysis of dolichol in human tissues by high pressure liquid chromatography

Lipids, 1980-03, Vol.15 (3), p.191-193

1980

Volltextzugriff (PDF)

Preparation of tritiated dolichol and dolichyl phosphate

Chemistry and physics of lipids, 1976-10, Vol.17 (2), p.193-200

1976

Volltextzugriff (PDF)

1 – 24 von 24

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(24)
Mit Volltextzugriff
(20)

Publikationsform

Artikel
(24)

Sprache

Englisch
(24)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus‐mediated expression

PIH2 THE COST-EFFECTIVENESS OF EXPANDING NEWBORN SCREENING FOR INHERITED METABOLIC DISORDERS USING TANDEM MASS SPECTROMETRY

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

The Expanding Spectrum of Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency (Mcadd) from Trait to Lethality: Mcadd Experience Using the Canadian Paediatric Surveillance Program

Isolated sulfite oxidase deficiency

Consequences of Aging on Mitochondrial Respiratory Chain Enzymes in Cultured Human Fibroblasts Treated with Ascorbate

Distribution, metabolism and function of dolichol and polyprenols

Nerve biopsy findings in Niemann-Pick type II (NPC)

Aspartylglucosaminuria in a Canadian family

Rat liver lysosome membranes are enriched in alpha-tocopherol

Medium‐chain acyl‐CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome

Purification and structure of human liver aspartylglucosaminidase

Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver

Occurrence of dolichol in human tissues

Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency

Use of a genetic variant to study the hexose transport properties of human skin fibroblasts

The preparation of rat liver lysosome membranes. Several membrane proteins contain complex oligosaccharides

Glycoprotein biosynthesis in quiescent and stimulated thymocytes and a T-cell lymphoma. The synthesis of high-mannose oligosaccharides

Analysis of dolichol in human tissues by high pressure liquid chromatography

Preparation of tritiated dolichol and dolichyl phosphate

Suchergebnisse filtern