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Lista de obras de Ron A. Wevers

-mutated cancers are sensitive to the green tea polyphenol epigallocatechin-3-gallate

artículo científico publicado en 2019

1H NMR spectral identification of medication in cerebrospinal fluid of pediatric meningitis

artículo científico publicado en 2017

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism

artículo científico publicado en 1997

1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recovery

artículo científico publicado en 2002

1H-magnetic resonance spectroscopy: a new technique to discriminate benign from malignant ovarian tumors

artículo científico publicado en 1998

A bioluminescent assay for enolase (EC 4.2.1.11) activity in human serum and cerebrospinal fluid

scientific article published on 01 December 1983

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder

scientific article published on 01 September 2000

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics

artículo científico publicado en 2004

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

artículo científico publicado en 1998

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 1998

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

artículo científico publicado en 2010

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

artículo científico publicado en 1999

A study on post-synthetic modifications in alfa-alfa enolase (EC 4.2.1.11) brought about by a human serum protein

artículo científico publicado en 1984

A study on the dimeric structure of creatine kinase (EC 2.7.3.2).

artículo científico publicado en 1977

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria

artículo científico publicado en 2006

Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholamines

artículo científico publicado en 1998

Acute transverse myelopathy as the initial manifestation of probable systemic lupus erythematosus in a child

artículo científico publicado en 1988

Adenosine triphosphatases during maturation of cultured human skeletal muscle cells and in adult human muscle

artículo científico publicado el 23 de noviembre de 1992

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

artículo científico publicado en 2001

Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease

scientific article published on 01 November 2005

Aminoacylase I deficiency: a novel inborn error of metabolism.

artículo científico publicado en 2005

An immunobioluminescence assay for gamma-gamma enolase activity in human serum and cerebrospinal fluid

scientific article published on 01 December 1988

Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome

artículo científico publicado en 1998

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

artículo científico publicado en 2003

Are myo-inositol, glucose and zinc concentrations in amniotic fluid of fetuses with spina bifida different from controls?

artículo científico publicado en 2003

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.

artículo científico publicado en 2002

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Beta-mannosidosis and ethanolaminuria in a female patient

artículo científico publicado en 1992

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

scientific article published on 15 August 2019

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

artículo científico publicado en 2018

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

artículo científico publicado en 2005

Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix

artículo científico publicado en 2000

CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans

scientific article published on 14 January 2006

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

artículo científico publicado en 2015

CSF concentration and CSF/blood ratio of fuel related components in children after prolonged fasting

artículo científico publicado en 1987

Cerebrospinal fluid homocysteine and the cobalamin status of the brain

artículo científico publicado en 1993

Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients

artículo científico publicado en 2000

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

artículo científico publicado en 2005

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency

artículo científico publicado en 2002

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

artículo científico publicado en 2004

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

artículo científico publicado en 2000

Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.

artículo científico publicado en 1994

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency

artículo científico publicado en 2006

Clinical significance of low cobalamin levels in older hospital patients

artículo científico publicado en 2000

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

artículo científico publicado en 2001

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

artículo científico publicado en 2002

Cobalamin-binding proteins in normal and cobalamin-deficient older subjects

scientific article published on 01 January 2003

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

artículo científico publicado en 1997

DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome

artículo científico publicado en 2004

Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism

artículo científico publicado en 2003

Decreased vitamin B12 and folate levels in cerebrospinal fluid and serum of multiple sclerosis patients after high-dose intravenous methylprednisolone.

artículo científico publicado en 1993

Defective protein glycosylation in patients with cutis laxa syndrome.

artículo científico publicado en 2005

Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level

artículo científico publicado en 2001

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

artículo científico publicado en 2006

Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine

scientific article published on 01 January 1995

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation? ⬇️

artículo científico publicado el 1 de septiembre de 1997

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

artículo científico publicado en 2006

Dopa-responsive dystonia: A clinical and molecular genetic study

artículo científico publicado en 1998

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

artículo científico publicado en 1999

Effect of various agents on the cytoplasmic calcium concentration in cultured human muscle cells

artículo científico publicado en 1991

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

artículo científico publicado en 1995

Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients

artículo científico publicado en 2018

Excessive plasma K+ increase after ischemic exercise in myotonic muscular dystrophy

artículo científico publicado en 1990

Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency. ⬇️

artículo científico publicado en 1993

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

scientific article published on 01 August 1997

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

artículo científico publicado en 2006

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study

scientific article published on 01 January 2005

Factors affecting magnitude and time course of neuromuscular block produced by suxamethonium

artículo científico publicado en 1992

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

artículo científico publicado en 2018

Fasting studies in cerebrospinal fluid and blood in children with epilepsy of unknown origin

artículo científico publicado en 1995

Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system

artículo científico publicado en 1994

Folinic acid-responsive seizures initially responsive to pyridoxine

artículo científico publicado en 2006

Follow-up of a child with hypoacetylaspartia.

artículo científico publicado en 2004

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism

artículo científico publicado en 2000

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

artículo científico publicado en 2019

GC-MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption.

artículo científico publicado en 2018

GM2-gangliosidosis. Clinical and biochemical aspects of four cases

artículo científico publicado en 1990

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency

scientific article published on 05 May 2006

Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency

artículo científico publicado en 2006

Genetic characteristics of myoadenylate deaminase deficiency

scientific article published on 01 July 1998

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value

scientific article published on 01 January 1997

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency

artículo científico publicado en 1999

High-performance liquid chromatography of monosaccharides and oligosaccharides in a complex biological matrix

artículo científico publicado en 1991

High-resolution 1H NMR spectroscopy of amniotic fluids from spina bifida fetuses and controls

artículo científico publicado en 2004

Hypoxia in fetal lambs: a study with (1)H-MNR spectroscopy of cerebrospinal fluid

artículo científico publicado en 2001

I-cell disease presenting with severe hypophosphatemia and cardiomyopathy

artículo científico publicado en 2000

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

artículo científico publicado en 2011

Identification of the carboxypeptidase responsible for the post-synthetic modification of creatine kinase in human serum

artículo científico publicado en 1988

Immunological measurements on the disappearance of creatine kinase MM from the circulation

scientific article published on 01 July 1983

Improvement of screening in exertional myalgia with a standardized ischemic forearm test

scientific article published on 01 October 1986

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

artículo científico publicado en 2002

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

artículo científico publicado en 2014

Indices for the age of the creatine kinase M-chain in the blood.

artículo científico publicado en 1985

Infective acute transverse myelopathy. Report of two cases.

artículo científico publicado en 1991

Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective

scientific article published on 24 October 2019

Intravenous immunoglobulin preparation increases myoplasmic calcium concentration by activating the dihydropyridine-ryanodine receptor complex

artículo científico publicado en 1998

Intravenous pyruvate loading test in Leigh syndrome

artículo científico publicado en 1987

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

artículo científico publicado en 1996

Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency

artículo científico publicado en 1992

Isoelectric focusing and hybridisation experiments on creatine kinase (EC 2.7.3.2)

artículo científico publicado en 1977

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

artículo científico publicado en 1995

Kinetics of myo-inositol loading in women of reproductive age.

artículo científico publicado en 2003

Lactobacilli and acidosis in children with short small bowel

scientific article published on 01 March 2000

Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome

artículo científico publicado en 2003

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype

artículo científico publicado en 2006

Lithium induces aerobic glycolysis and glutaminolysis in collecting duct principal cells

artículo científico publicado en 2017

Long-term follow up of a new case of hawkinsinuria

artículo científico publicado en 1999

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

artículo científico publicado en 2018

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

artículo científico publicado en 2006

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

artículo científico publicado en 2017

Mannosidosis: a study of two patients, presenting clinical heterogeneity

scientific article published on 01 January 1987

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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge. Diagnosis with diffusion-weighted MRI leading to treatment with corticosteroids

artículo científico publicado en 2005

Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid

artículo científico publicado en 2006

Mitochondrial CK (EC 2.7.3.2) in the human heart

scientific article published on 01 February 1980

Mitochondrial creatine kinase (EC 2.7.3.2) in the brain

artículo científico publicado en 1982

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria

artículo científico publicado en 1994

Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia

artículo científico publicado en 1992

Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism

artículo científico publicado el 25 de septiembre de 1992

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

artículo científico publicado en 2004

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

artículo científico publicado en 1997

Molecular identification in metabolomics using infrared ion spectroscopy.

artículo científico publicado en 2017

Movement disorders in cerebrotendinous xanthomatosis

artículo científico publicado en 2018

Muscle function during fatigue in myoadenylate deaminase-deficient Dutch subjects

scientific article published on 01 May 2000

Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects

artículo científico publicado en 2002

Muscle function in a patient with Brody's disease

artículo científico publicado en 1999

Muscle tissue oxygenation as a functional tool in the follow up of dermatomyositis.

artículo científico publicado en 2002

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder

scientific article published on 16 November 2018

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

artículo científico publicado en 2006

Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

Myo-inositol, glucose and zinc status as risk factors for non-syndromic cleft lip with or without cleft palate in offspring: a case-control study.

artículo científico publicado en 2004

Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families

artículo científico publicado en 1988

N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression

scientific article published on 23 May 2019

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism

artículo científico publicado en 2003

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

artículo científico publicado en 2006

Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption

artículo científico publicado en 2002

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

artículo científico publicado en 1997

Neurotransmitter metabolites in CSF: an external quality control scheme

artículo científico publicado en 2002

Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency

artículo científico publicado en 2000

New treatment strategy for Smith-Lemli-Opitz syndrome

artículo científico publicado en 1997

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

artículo científico publicado en 2018

Normal carnitine levels in patients with chronic fatigue syndrome

artículo científico publicado en 2000

Oligosaccharide excretion in adult Gaucher disease

scientific article published on 01 February 1998

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

scientific article published on 01 March 2019

Paediatric cerebrotendinous xanthomatosis

artículo científico publicado en 1992

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency

artículo científico publicado en 2000

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups

artículo científico publicado en 2005

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

artículo científico publicado en 1997

Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy

artículo científico publicado en 2005

Post-synthetic changes in creatine kinase isozymes (EC 2.7.3.2)

scientific article published on 01 June 1978

Prenatal analyses in a pregnancy at risk for beta-mannosidosis

artículo científico publicado en 1992

Presenile Cataract: Consider Cholestanol

artículo científico publicado en 2006

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

artículo científico publicado en 2017

Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine

artículo científico publicado en 2001

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

artículo científico publicado en 2005

Proteomics and neuromuscular diseases: theoretical concept and first results.

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

artículo científico publicado en 1999

Reference values of blood components related to fuel metabolism in children after an overnight fast

artículo científico publicado en 1985

Response to "Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A"

artículo científico publicado en 2018

Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria

artículo científico publicado en 2003

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

artículo científico publicado en 2004

Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete

artículo científico publicado en 2001

Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: proof-of-principle

scientific article published on 01 November 2005

Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients

artículo científico publicado en 2003

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

artículo científico publicado en 2018

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

artículo científico publicado en 1998

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

artículo científico publicado en 1997

Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis

artículo científico publicado en 2004

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

artículo científico publicado en 1999

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

artículo científico publicado en 2018

Statin-disclosed acid maltase deficiency

artículo científico publicado en 2005

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.

artículo científico publicado en 2017

Targeted versus untargeted omics - the CAFSA story

artículo científico publicado en 2018

The 1H-NMR-based metabolite profile of acute alcohol consumption: A metabolomics intervention study.

artículo científico publicado en 2018

The GC-MS metabolomics signature in patients with fibromyalgia syndrome directs to dysbiosis as an aspect contributing factor of FMS pathophysiology

scientific article published on 27 March 2019

The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred

scientific article published on 15 May 2019

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

artículo científico publicado en 1990

The concentration of blood components related to fuel metabolism during prolonged fasting in children

artículo científico publicado en 1985

The effects of acute cerebrovascular disease on serum and cerebrospinal fluid parameters

artículo científico publicado en 1987

The frequency of lysosomal storage diseases in The Netherlands.

artículo científico publicado en 1999

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients

artículo científico publicado en 2000

The relation between blood lactate and ammonia in ischemic handgrip exercise

scientific article published on 01 July 1985

The role of the clinician in the multi-omics era: are you ready?

artículo científico publicado en 2018

The second wind phenomenon in McArdle's disease

artículo científico publicado en 1986

The short-term effect of an immunosuppressive treatment on CSF myelin basic protein in chronic progressive multiple sclerosis.

artículo científico publicado en 1988

The significance of total creatine kinase activity and isozyme determinations in cerebrospinal fluid of neurological patients

artículo científico publicado en 1984

Think big - think omics

artículo científico publicado en 2018

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

artículo científico publicado en 2006

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

artículo científico publicado en 2007

Treatment and follow-up of children with cerebrotendinous xanthomatosis

artículo científico publicado en 1998

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

article

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

artículo científico publicado en 1996

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

artículo científico publicado en 2003

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation

artículo científico publicado en 2000

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

artículo científico publicado en 2000

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

artículo científico publicado en 2002

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.

artículo científico publicado en 2018

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

artículo científico publicado en 2005

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity

artículo científico publicado en 2020

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations

artículo científico publicado en 2002

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

artículo científico publicado en 1990

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis

artículo científico publicado en 1994

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

artículo científico publicado en 1999

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

scientific journal article

cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase

scientific journal article

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

artículo científico publicado en 2020

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