Books & Book Sections

Fast Facts: Aromatic L-Amino Decarboxylase Deficiency

First identified in 1990, aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare, debilitating, inherited neurological disorder. The disease typically manifests in the first year of life and, although some patients have relatively …

Inherited Disorders of Biogenic Amines: A Pratical Guide (Edited by Nenad Blau and Georg F. Hoffmann)

Chapter 2 Biochemistry of Biogenic Amines and Diagnostic Flow-Chart. Disorders of biogenic amines have been recognized as important causes of severe, progressive encephalopathies mostly of early onset. The past decade has seen immense progress, …

Movement Disorders and Inherited Metabolic Disorders (Edited by Darius Ebrahimi-Fakhari, Harvard Medical School, Phillip L. Pearl, Harvard Medical School)

Chapter 21 Neurotransmitter Disorder Disorder of Dopamine Metabolism and Movement Disorders

Vademecum Metabolicum: Diagnose und Therapie erblicher Stoffwechselkrankheiten, 5. Auflage, (Edited by Johannes Zschocke and Georg F. Hoffmann)

Translation to German