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

Interallelic Complementation ◽

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 ◽

Aromatic Amino Acid Decarboxylase Deficiency

Encyclopedia of Movement Disorders ◽

10.1016/b978-0-12-374105-9.00301-4 ◽

2010 ◽

pp. 64-68

Author(s):

R. Pons

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications

Human Molecular Genetics ◽

10.1093/hmg/ddu266 ◽

2014 ◽

Vol 23 (20) ◽

pp. 5429-5440 ◽

Cited By ~ 23

Author(s):

Riccardo Montioli ◽

Mirco Dindo ◽

Alejandro Giorgetti ◽

Stefano Piccoli ◽

Barbara Cellini ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Molecular Mechanisms ◽

Acid Decarboxylase ◽

Comprehensive Picture ◽

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 ◽

S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine

Human Molecular Genetics ◽

10.1093/hmg/ddt011 ◽

2013 ◽

Vol 22 (8) ◽

pp. 1615-1624 ◽

Cited By ~ 18

Author(s):

Riccardo Montioli ◽

Elisa Oppici ◽

Barbara Cellini ◽

Alessandro Roncador ◽

Mirco Dindo ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Molecular Defects ◽

Aromatic amino acid decarboxylase deficiency in twins

Journal of Inherited Metabolic Disease ◽

10.1007/bf01799380 ◽

1990 ◽

Vol 13 (3) ◽

pp. 301-304 ◽

Cited By ~ 61

Author(s):

K. Hyland ◽

P. T. Clayton

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

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

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.03.009 ◽

2019 ◽

Vol 127 (1) ◽

pp. 12-22 ◽

Cited By ~ 11

Author(s):

Nastassja Himmelreich ◽

Riccardo Montioli ◽

Mariarita Bertoldi ◽

Carla Carducci ◽

Vincenzo Leuzzi ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Metabolic Basis ◽