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Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diagnosed presymptomatically. Molecular genetic analysis of the IVD gene for 19 subjects whose condition was(More)
There is international consensus that patients with phenylalanine (Phe) levels <360 μM on a free diet do not need Phe-lowering dietary treatment whereas patients with levels >600 μM do. Clinical outcome of patients showing Phe levels between 360 and 600 μM in serum on a free nutrition has so far only been assessed in a small number of cases. Therefore,(More)
BACKGROUND Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. STUDY DESIGN/METHODS Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers(More)
A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression levels and transcript stabilities of the different splice(More)
In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed(More)
New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and(More)
Between 1977 and 1980 four patients, three to ten years old, were treated with Intermittant Peritoneal Dialysis ( IPD ) and/or Continuous Ambulatory Peritoneal Dialysis ( CAPD ) during a period up to 21 months. The results were comparable to those of hemodialysis. Peritoneal dialysis was very well tolerafied. The simple technic of CAPD suits the needs of(More)
In order to further evaluate different hypotheses concerning brain metabolism in galactosemia, six adult patients aged 18–29 years with classical galactosemia under dietary treatment underwent localized1H and31P magnetic resonance spectroscopy (MRS) in addition to conventional T1-and T2-weighted MRI. Galactose-1-phosphate levels in erythrocytes were 1.1–3.7(More)
BACKGROUND Different exogenous and endogenous provocation factors such as mental stress are hypothesized as being relevant in the pathophysiology of atopic dermatitis (AD). OBJECTIVE The purpose of this study was to examine the effects of acute psychological stress on illness-specific immunologic parameters in AD. Patients with psoriasis and healthy(More)
Ischemic stroke is a rare event in childhood. In approximately one third of cases no obvious underlying cause or disorder can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for spontaneous ischemic stroke in children. One hundred forty-eight Caucasian infants(More)