List of works - Ron A. Wevers

The frequency of lysosomal storage diseases in The Netherlands.

scientific article

Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism

scientific article published on September 25, 1992

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

scientific article

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

scientific article published in January 1995

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

scientific article published on 14 February 2007

Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle.

scientific article published on July 2001

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

scientific article published on May 2000

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

scientific article

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

article

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review

scientific article

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

scientific article published in November 2003

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

scientific article published on October 1997

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

scientific article

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

scientific article

Arts syndrome is caused by loss-of-function mutations in PRPS1

scientific article

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

scientific article published on 17 September 2010

Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida

scientific article

Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry

scientific article published on 21 July 2005

Dopa-responsive dystonia: A clinical and molecular genetic study

scientific article published on 01 October 1998

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

scientific article published in June 1998

Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism.

scientific article

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency

scientific article

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype

scientific article published in September 2006

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

scientific article

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy

scientific article

In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise

scientific article published on 01 May 2002

Defective protein glycosylation in patients with cutis laxa syndrome

scientific article published in April 2005

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

scientific journal article

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

scientific article

Treatment and follow-up of children with cerebrotendinous xanthomatosis

scientific article published on 01 April 1998

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

scientific article published in January 2003

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

scientific article

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

scientific article

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

scientific article

Vitamin B12 and folate concentrations in serum and cerebrospinal fluid of neurological patients with special reference to multiple sclerosis and dementia.

scientific article published on November 1990

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

scientific article

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

scientific article published in March 2002

SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes.

scientific article

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

scientific article published on 01 July 1997

The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy

scientific article published on 01 November 1990

Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis

scientific article published on 01 February 1999

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy

scientific article published on 18 May 2006

Neuron-specific enolase, S-100 protein, myelin basic protein and lactate in CSF in dementia

scientific article published in May 1997

Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease

scientific article

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

scientific article published on 9 March 2006

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects

scientific article published on 14 December 2006

List of works by Ron A. Wevers

The frequency of lysosomal storage diseases in The Netherlands.

Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Arts syndrome is caused by loss-of-function mutations in PRPS1

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida

Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry

Dopa-responsive dystonia: A clinical and molecular genetic study

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy

In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise

Defective protein glycosylation in patients with cutis laxa syndrome

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Treatment and follow-up of children with cerebrotendinous xanthomatosis

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

Vitamin B12 and folate concentrations in serum and cerebrospinal fluid of neurological patients with special reference to multiple sclerosis and dementia.

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy

Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy

Neuron-specific enolase, S-100 protein, myelin basic protein and lactate in CSF in dementia

Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects