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Abnormal bradykinin signalling in fibroblasts deficient in the PIP₂ 5-phosphatase, ocrl1

Journal of inherited metabolic disease, 2009, Vol.32 (2), p.280-288

2009

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Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease

Molecular psychiatry, 1998-11, Vol.3 (6), p.493-499

1998

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Dent Disease with Mutations in OCRL1

American journal of human genetics, 2005-02, Vol.76 (2), p.260-267

2005

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Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry

Nature biotechnology, 2003-07, Vol.21 (7), p.813-817

2003

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Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

American journal of human genetics, 1997-06, Vol.60 (6), p.1384-1388

1997

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The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.121-128

2006

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First report of prenatal biochemical diagnosis of Lowe syndrome

Prenatal diagnosis, 1998-11, Vol.18 (11), p.1117-1121

1998

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Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

Human molecular genetics, 1995-12, Vol.4 (12), p.2245-2250

1995

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Effect of biotin deficiency and supplementation on lipid metabolism in rats: saturated fatty acids

The American journal of clinical nutrition, 1986-10, Vol.44 (4), p.475-480

1986

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Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins

The American journal of clinical nutrition, 1986-05, Vol.43 (5), p.831-838

1986

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Down Syndrome Screening in Women Under 35 With Maternal Serum hCG

Obstetrics and gynecology (New York. 1953), 1990-07, Vol.76 (1), p.20-24

1990

Volltextzugriff (PDF)

A monoclonal antibody, WCC4, recognizes a developmentally regulated ganglioside containing α-galactose and α-fucose present in the rat nervous system

Brain research, 1988-02, Vol.440 (1), p.25-34

1988

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Neurologic symptoms of biotinidase deficiency: possible explanation

Neurology, 1985-10, Vol.35 (10), p.1510

1985

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The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

American journal of human genetics, 2002-12, Vol.71 (6), p.1420-1427

2002

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The expression of a fucosyl-ganglioside in the molecular layer of the dentate gyrus following entorhinal cortical lesions

Neuroscience letters, 1991-09, Vol.131 (1), p.105-108

1991

Volltextzugriff (PDF)

Ileal dysfunction in Crohn's disease assessed by the postprandial serum bile acid response

Gut, 1981-11, Vol.22 (11), p.948-952

1981

Volltextzugriff (PDF)

Abnormal bradykinin signalling in fibroblasts deficient in the PIP 2 5‐phosphatase, ocrl1

Journal of inherited metabolic disease, 2009-04, Vol.32 (2), p.280-288

2009

Volltextzugriff (PDF)

Abnormal bradykinin signalling in fibroblasts deficient in the PIP2 5-phosphatase, ocrll

Journal of inherited metabolic disease, 2009, Vol.32 (2), p.280-288

2009

Volltextzugriff (PDF)

Amino acids in amniotic fluid in the second trimester of gestation

Pediatric research, 1985-10, Vol.19 (10), p.1021-1024

1985

Volltextzugriff (PDF)

False-positive amniotic fluid acetylcholinesterase analysis in the third trimester

Prenatal diagnosis, 1993-05, Vol.13 (5), p.363-369

1993

Volltextzugriff (PDF)

The expression of H-like blood group glycolipids in small cell carcinoma of the lung

Hybridoma, 1993-06, Vol.12 (3), p.239

1993

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Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1

Journal of inherited metabolic disease, 2009-04, Vol.32 (2), p.280

2009

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Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis

European journal of cell biology, 1997-12, Vol.74 (4), p.350-360

1997

Volltextzugriff (PDF)

PROTEIN-BOUND BIOTIN: A CONSIDERATION IN MULTIPLE CARBOXYLASE DEFICIENCY

The Lancet (British edition), 1982-01, Vol.319 (8263), p.108-108

1982

Volltextzugriff (PDF)

Sertoli Cell Vacuolization and Abnormal Germ Cell Adhesion in Mice Deficient in an Inositol Polyphosphate 5-Phosphatase

Biology of reproduction, 2002-05, Vol.66 (5), p.1522-1530

2002

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Abnormal bradykinin signalling in fibroblasts deficient in the PIP₂ 5-phosphatase, ocrl1

Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease

Dent Disease with Mutations in OCRL1

Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function

First report of prenatal biochemical diagnosis of Lowe syndrome

Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

Effect of biotin deficiency and supplementation on lipid metabolism in rats: saturated fatty acids

Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins

Down Syndrome Screening in Women Under 35 With Maternal Serum hCG

A monoclonal antibody, WCC4, recognizes a developmentally regulated ganglioside containing α-galactose and α-fucose present in the rat nervous system

Neurologic symptoms of biotinidase deficiency: possible explanation

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

The expression of a fucosyl-ganglioside in the molecular layer of the dentate gyrus following entorhinal cortical lesions

Ileal dysfunction in Crohn's disease assessed by the postprandial serum bile acid response

Abnormal bradykinin signalling in fibroblasts deficient in the PIP 2 5‐phosphatase, ocrl1

Abnormal bradykinin signalling in fibroblasts deficient in the PIP2 5-phosphatase, ocrll

Amino acids in amniotic fluid in the second trimester of gestation

False-positive amniotic fluid acetylcholinesterase analysis in the third trimester

The expression of H-like blood group glycolipids in small cell carcinoma of the lung

Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1

Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis

PROTEIN-BOUND BIOTIN: A CONSIDERATION IN MULTIPLE CARBOXYLASE DEFICIENCY

Sertoli Cell Vacuolization and Abnormal Germ Cell Adhesion in Mice Deficient in an Inositol Polyphosphate 5-Phosphatase

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