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A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

American journal of human genetics, 2000-06, Vol.66 (6), p.1744-1756

2000

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Modulation of the peroxisomal gene expression pattern by dehydroepiandrosterone and vitamin D: therapeutic implications

Journal of endocrinology, 2002-12, Vol.175 (3), p.779-792

2002

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Clinical approach to inherited peroxisomal disorders: A series of 27 patients

Annals of neurology, 1998-11, Vol.44 (5), p.720-730

1998

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Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluria

Kidney international, 1996-11, Vol.50 (5), p.1747-1752

1996

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Human peroxisomal disorders

Microscopy research and technique, 2003-06, Vol.61 (2), p.203-223

2003

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A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver

Biochimie, 2011-05, Vol.93 (5), p.876-891

2011

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Simultaneous occurrence of a thyromediastinal muscle, a truncus bicaroticobrachialis, and a left superior vena cava

Clinical anatomy (New York, N.Y.), 2003-03, Vol.16 (2), p.176-181

2003

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Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease

Neurology, 1998-11, Vol.51 (5), p.1427

1998

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Characterization of human peroxisomal membrane proteins

The Journal of biological chemistry, 1994-10, Vol.269 (40), p.24890-24896

1994

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Mevalonate kinase is a cytosolic enzyme in humans

Journal of cell science, 2004-02, Vol.117 (Pt 4), p.631-639

2004

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Immunocytochemical localization of peroxisomal proteins in human liver and kidney

Journal of inherited metabolic disease, 1995-01, Vol.18 (S1), p.135-154

1995

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Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution

Annals of neurology, 2000-01, Vol.47 (1), p.109-113

2000

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Phosphomevalonate kinase is a cytosolic protein in humans

Journal of lipid research, 2004-04, Vol.45 (4), p.697-705

2004

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Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency

Virchows Archiv : an international journal of pathology, 2000-05, Vol.436 (5), p.459-465

2000

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Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review

Journal of inherited metabolic disease, 1991-11, Vol.14 (6), p.853-875

1991

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Human liver pathology in peroxisomal diseases: A review including novel data

Biochimie, 1993, Vol.75 (3), p.281-292

1993

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Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

Annals of the New York Academy of Sciences, 1996-12, Vol.804 (1), p.747-749

1996

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A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

American journal of human genetics, 2002-04, Vol.70 (4), p.1062-1068

2002

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Different types of peroxisomes in human duodenal epithelium

Gut, 1991-08, Vol.32 (8), p.858-865

1991

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Catalase-negative peroxisomes in human embryonic liver

Cell and tissue research, 1993-04, Vol.272 (1), p.89-92

1993

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Human mevalonate pyrophosphate decarboxylase is localized in the cytosol

Molecular genetics and metabolism, 2004-03, Vol.81 (3), p.216-224

2004

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Peroxisome mosaicism in the livers of peroxisomal deficiency patients1

Hepatology (Baltimore, Md.), 1995-08, Vol.22 (2), p.497-504

ESPEEL, M

1995

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Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata : clinical presentation, metabolic and histological findings

European journal of pediatrics, 1996-12, Vol.155 (12), p.1035-1039

1996

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Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders

European journal of cell biology, 1995-08, Vol.67 (4), p.319

1995

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Secretion of 23 kDa and glycosylated prolactin by rat pituitary cell culture in serum-free media: a comparative morphological, cyto- and immunochemical study

Endocrine, 1995-01, Vol.3 (1), p.61-68

1995

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A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

Modulation of the peroxisomal gene expression pattern by dehydroepiandrosterone and vitamin D: therapeutic implications

Clinical approach to inherited peroxisomal disorders: A series of 27 patients

Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluria

Human peroxisomal disorders

A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver

Simultaneous occurrence of a thyromediastinal muscle, a truncus bicaroticobrachialis, and a left superior vena cava

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease

Characterization of human peroxisomal membrane proteins

Mevalonate kinase is a cytosolic enzyme in humans

Immunocytochemical localization of peroxisomal proteins in human liver and kidney

Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution

Phosphomevalonate kinase is a cytosolic protein in humans

Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency

Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review

Human liver pathology in peroxisomal diseases: A review including novel data

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Different types of peroxisomes in human duodenal epithelium

Catalase-negative peroxisomes in human embryonic liver

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol

Peroxisome mosaicism in the livers of peroxisomal deficiency patients1

Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata : clinical presentation, metabolic and histological findings

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders

Secretion of 23 kDa and glycosylated prolactin by rat pituitary cell culture in serum-free media: a comparative morphological, cyto- and immunochemical study

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