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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

Journal of medical genetics, 2007-11, Vol.44 (11), p.673-688

2007

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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.181-184

2011

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Farnesoid X receptor activation inhibits inflammation and preserves the intestinal barrier in inflammatory bowel disease

Gut, 2011-04, Vol.60 (4), p.463-472

2011

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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

Human mutation, 2009-05, Vol.30 (5), p.749-756

2009

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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

The Lancet (British edition), 2004-12, Vol.364 (9452), p.2221-2222

2004

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Genetics of familial intrahepatic cholestasis syndromes

Journal of Medical Genetics, 2005-06, Vol.42 (6), p.449-463

2005

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The copper connection

European journal of neurology, 2009-10, Vol.16 (10), p.1073-1074

2009

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Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis

The American journal of clinical nutrition, 1998-05, Vol.67 (5), p.972S-977S

1998

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A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

Nature genetics, 1998-03, Vol.18 (3), p.219-224

1998

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Expression of the Ceruloplasmin Gene in the Human Retina and Brain: Implications for a Pathogenic Model in Aceruloplasminemia

Human molecular genetics, 1996-12, Vol.5 (12), p.1989-1996

1996

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Fine-resolution mapping by haplotype evaluation : the examples of PFIC1 and BRIC

Human genetics, 1999-03, Vol.104 (3), p.241-248

1999

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Biosynthesis of a human gall-bladder mucin

Biochemical journal, 1994-12, Vol.304 ( Pt 3) (3), p.737-744

1994

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Cloning and analysis of human gastric mucin cDNA reveals two types of conserved cysteine-rich domains

Biochemical journal, 1995-06, Vol.308 ( Pt 3) (3), p.831-838

1995

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Structure, Expression, and Chromosomal Localization of the Mouse Atox1 Gene

Genomics (San Diego, Calif.), 2000-01, Vol.63 (2), p.294-297

2000

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Identification of a human gastric mucin precursor: N-linked glycosylation and oligomerization

Biochemical journal, 1994-12, Vol.304 ( Pt 3) (3), p.693-698

1994

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From gene to disease; Wilson disease: copper storage due to mutations in ATP7B

Nederlands tijdschrift voor geneeskunde, 2003-03, Vol.147 (13), p.603

2003

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Determining the ERK-regulated phosphoproteome driving KRAS-mutant cancer

Science (American Association for the Advancement of Science), 2024-06, Vol.384 (6700), p.eadk0850-eadk0850

2024

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Raised hepatic bile acid concentrations during pregnancy in mice are associated with reduced farnesoid X receptor function

Hepatology (Baltimore, Md.), 2010-10, Vol.52 (4), p.1341-1349

2010

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Defining the KRAS- and ERK-dependent transcriptome in KRAS-mutant cancers

Science (American Association for the Advancement of Science), 2024-06, Vol.384 (6700), p.eadk0775-eadk0775

2024

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l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.256-262

2010

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Multi-center reproducibility of neurochemical profiles in the human brain at 7T

NMR in biomedicine, 2015-03, Vol.28 (3), p.306-316

2015

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Introduction of Ultra-High-Field MR Imaging in Infants: Preparations and Feasibility

American journal of neuroradiology : AJNR, 2020-08, Vol.41 (8), p.1532-1537

2020

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Characterization of mutations in ATP8B1 associated with hereditary cholestasis

Hepatology (Baltimore, Md.), 2004-07, Vol.40 (1), p.27-38

2004

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The gene product Murr1 restricts HIV-1 replication in resting CD4 + lymphocytes

Nature, 2003-12, Vol.426 (6968), p.853-857

2003

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Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy

Baillière's best practice & research. Clinical gastroenterology, 2010-10, Vol.24 (5), p.541-553

2010

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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

Farnesoid X receptor activation inhibits inflammation and preserves the intestinal barrier in inflammatory bowel disease

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

Genetics of familial intrahepatic cholestasis syndromes

The copper connection

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

Expression of the Ceruloplasmin Gene in the Human Retina and Brain: Implications for a Pathogenic Model in Aceruloplasminemia

Fine-resolution mapping by haplotype evaluation : the examples of PFIC1 and BRIC

Biosynthesis of a human gall-bladder mucin

Cloning and analysis of human gastric mucin cDNA reveals two types of conserved cysteine-rich domains

Structure, Expression, and Chromosomal Localization of the Mouse Atox1 Gene

Identification of a human gastric mucin precursor: N-linked glycosylation and oligomerization

From gene to disease; Wilson disease: copper storage due to mutations in ATP7B

Determining the ERK-regulated phosphoproteome driving KRAS-mutant cancer

Raised hepatic bile acid concentrations during pregnancy in mice are associated with reduced farnesoid X receptor function

Defining the KRAS- and ERK-dependent transcriptome in KRAS-mutant cancers

l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

Multi-center reproducibility of neurochemical profiles in the human brain at 7T

Introduction of Ultra-High-Field MR Imaging in Infants: Preparations and Feasibility

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

The gene product Murr1 restricts HIV-1 replication in resting CD4 + lymphocytes

Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy

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