![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
Open AccessLong-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalani...
-
Article
Open AccessBelgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare...
-
Article
Open AccessEfficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylk...
-
Article
Open AccessInternational clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated...
-
Chapter
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Introduction: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the ex...
-
Article
Open AccessNeurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and ki...
-
Article
Open AccessMitochondrial mosaics in the liver of 3 infants with mtDNA defects
In muscle cytochrome oxidase (COX) negative fibers (mitochondrial mosaics) have often been visualized.
-
Article
Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder
The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in at least 11 distinct genes. The prototype of this group of disorders is Zellweger...
-
Article
The use of split-sample design for performance evaluation of screening kits
Laboratory medicine is an important discipline in health care with its remarkable effect on risk assessment, diagnosis of health, and disease state. This accounts describes a newborn screening approach involvi...
-
Chapter and Conference Paper
Peroxisome Mosaics
Peroxisome mosaics are livers (Fig. 1) that display cells with normal peroxisomes (Px) adjacent to cells that resemble Zellweger hepatocytes, i.e. catalase and AGT are in the cytoplasm, and macrophages contain...
-
Article
A marked difference between two populations under mass screening of neonatal TSH and biotinidase activity
Health-associated reference values are universally needed in clinical chemistry. The aim of this study was to establish the reference intervals of two populations from data obtained by the mass screening of ne...