Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

Phenylketonuria (PKU) is heterogeneous. More than 400 different mutations in the
phenylalanine hydroxylase (PAH) gene have been identified. In a systematic review of the …

The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …

Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused
by mutations in the gene encoding phenylalanine hydroxylase (PAH). Previous studies have …

The risk of diabetic nephropathy is partially genetically determined. Diabetic nephropathy is
linked to a gene locus on chromosome 18q22. 3-q23. We aimed to identify the causative …

In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis
of pyridoxal 5′-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results …

Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-
hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute …

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …

Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical …