43 Result(s)

Article

Substrate deprivation therapy in juvenile Sandhoff disease

Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated sub...

S. B. Wortmann, D. J. Lefeber, G. Dekomien… in Journal of Inherited Metabolic Disease (2009)

Article

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of bioche...

É. Morava, H. Wosik, J. Kárteszi, M. Guillard… in Journal of Inherited Metabolic Disease (2008)

Article

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

Hereditary fructose intolerance (HFI) is caused by a deficiency of aldolase B due to mutations of the ALDOB gene. The disease poses diagnostic problems because of unspecific clinical manifestations. We report thr...

M. Adamowicz, R. Płoski, D. Rokicki, E. Morava… in Journal of Inherited Metabolic Disease (2007)

Article

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

Inborn errors of metabolism are rare and laboratories performing diagnostic tests in this field must participate in external quality assurance (EQA) schemes to demonstrate their competence and also to maintain...

G. J. G. Ruijter, M. Boer, C. W. Weykamp… in Journal of Inherited Metabolic Disease (2005)

Article

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

J F M Jacobs, M A A P Willemsen, J J Groot-Loonen… in Bone Marrow Transplantation (2005)

Article

Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge

Streptococcus pneumoniae is a common cause of bacterial meningitis but only rarely causes other infections such as brain abscess, encephalitis, encephalomyelitis or meningoencephalitis. We report on three adult p...

Philippe G. Jorens, Paul M. Parizel, Hendrik E. Demey, Katrien Smets… in Neuroradiology (2005)

Article

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

Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver dis...

L. J. M. Spaapen, J. A. Bakker… in Journal of Inherited Metabolic Disease (2005)

Chapter

Lysosomes and Lysosomal Disorders

R.A. Wevers, V. Gieselmann in Magnetic Resonance of Myelination and Myelin Disorders (2005)

Article

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

Summary: Deficiency of succinic semialdehyde dehydrogenase (SSADH) is a rare neurometabolic disorder with accumulation of 4-hydroxybutyric acid (4-HBA) as a biochemical hallmark. We prese...

N. I. Wolf, D. Haas, G. F. Hoffmann, C. Jakobs… in Journal of Inherited Metabolic Disease (2004)

Article

Spinal phenotype of cerebrotendinous xanthomatosis

D. Bartholdi, D. Zumsteg, A. Verrips, R. A. Wevers, E. Sistermans… in Journal of Neurology (2004)

Article

Neurotransmitter metabolites in CSF: An external quality control scheme

We report an international external quality control scheme on neurotransmitter metabolites in cerebrospinal fluid (CSF). The neurotransmitter metabolites homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-...

C. Bräutigam, C. Weykamp, G. F. Hoffmann… in Journal of Inherited Metabolic Disease (2002)

Article

Prolidase deficiency diagnosed by ¹H NMR spectroscopy of urine

Three urine samples from two prolidase-deficient patients were analysed using ¹H NMR spectroscopy. One-dimensional ¹H NMR spectra showed a characteristic pattern of overlap** resonances of the proline and hydro...

S. H. Moolenaar, U. F. H. Engelke… in Journal of Inherited Metabolic Disease (2001)

Article

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

A. Evangeliou, C. Lionis, H. Michailidou… in Journal of Inherited Metabolic Disease (2001)

Article

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

The pyrimidine bases uracil and thymine are degraded via the consecutive action of three enzymes to β-alanine and β-aminoisobutyric acid, respectively. To date, a number of patients have been described with a ...

A. B. P. Van Kuilenburg, H. Van Lenthe… in Journal of Inherited Metabolic Disease (2001)

Article

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

Tyrosine hydroxylase (TH) deficiency is generally considered as a cause of the autosomal recessive form of dopa-responsive dystonia, also known as Segawa disease. Clinical hallmarks comprise parkinsonian and o...

P. De Lonlay, M. C. Nassogne, A. H. van Gennip… in Journal of Inherited Metabolic Disease (2000)

Article

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

C. Bräutigam, R. A. Wevers, K. Hyland… in Journal of Inherited Metabolic Disease (2000)

Article

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

N. G. G. M. Abeling, C. Bräutigam, G. F. Hoffmann… in Journal of Inherited Metabolic Disease (2000)

Article

The frequency of lysosomal storage diseases in The Netherlands

We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970–1996. ...

B.J.H.M. Poorthuis, R.A. Wevers, W.J. Kleijer, J.E.M. Groener… in Human Genetics (1999)