Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook

Metabolic Basis ◽

Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2021.06.010 ◽

2021 ◽

Author(s):

Nastassja Himmelreich ◽

Riccardo Montioli ◽

Mariarita Bertoldi ◽

Carla Carducci ◽

Vincenzo Leuzzi ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Metabolic Basis ◽

Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-011-9340-6 ◽

2011 ◽

Vol 34 (6) ◽

pp. 1213-1224 ◽

Cited By ~ 24

Author(s):

Riccardo Montioli ◽

Barbara Cellini ◽

Carla Borri Voltattorni

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Epidemiology, molecular genetics, and new treatment options for aromatic amino acid decarboxylase deficiency

Journal of the Neurological Sciences ◽

10.1016/j.jns.2019.10.384 ◽

2019 ◽

Vol 405 ◽

pp. 89-90

Author(s):

N. Himmelreich ◽

R. Montioli ◽

M. Bertoldi ◽

C. Carducci ◽

V. Leuzzi ◽

...

Keyword(s):

Amino Acid ◽

Molecular Genetics ◽

Aromatic Amino Acid ◽

Treatment Options ◽

Acid Decarboxylase ◽

New Treatment ◽

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.05.004 ◽

2019 ◽

Vol 127 (2) ◽

pp. 132-137 ◽

Cited By ~ 3

Author(s):

Riccardo Montioli ◽

Roberta Battini ◽

Alessandro Paiardini ◽

Manuela Tolve ◽

Mariarita Bertoldi ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Clinical Aspects ◽

Acid Decarboxylase ◽

Compound Heterozygous ◽

Heterozygous Genotype ◽

Biochemical Studies ◽

Human DOPA Decarboxylase: Catalysis and Involvement in Pharmacological Treatments for Parkinson’s Disease and Aromatic Amino Acid Decarboxylase Deficiency

Pharmaceutical Biocatalysis ◽

10.1201/9781003045397-3 ◽

2020 ◽

pp. 83-100

Author(s):

Mariarita Bertoldi ◽

Giada Rossignoli

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Amino Acid ◽

Aromatic Amino Acid ◽

Dopa Decarboxylase ◽

Acid Decarboxylase ◽

Pharmacological Treatments ◽

Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations

IUBMB Life ◽

10.1002/iub.1718 ◽

2018 ◽

Vol 70 (3) ◽

pp. 215-223 ◽

Cited By ~ 5

Author(s):

Riccardo Montioli ◽

Giacomo Janson ◽

Alessandro Paiardini ◽

Mariarita Bertoldi ◽

Carla Borri Voltattorni

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Interallelic Complementation ◽