Ongoing research produces publications. We are happy to share our knowledge in peer-review consensus guidelines that help physicians and clinicians to find valid diagnoses and proper treatment strategies for their patients.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive [...]
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis [...]
High Throughput Newborn Screening for Aromatic ʟ-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots Aromatic l ‐amino‐acid decarboxylase (AADC) deficiency is [...]
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders Introduction Inborn errors of tetrahydrobiopterin (BH4) biosynthesis or recycling are a group of very rare [...]
Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment Neurotransmitter deficiencies are rare neurological disorders with clinical onset during childhood. The disorders are [...]
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic [...]