A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva

Autor: Rosana H. Scola, Carla Carducci, Vanise G. Amaral, Paulo J. Lorenzoni, Helio A.G. Teive, Teresa Giovanniello, Lineu C. Werneck

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 65, Iss 4b, Pp 1224-1227 (2007)

Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We repo

Externí odkaz: https://doaj.org/article/01dcbe5625bd4222bca5f5a0d91c04f5

The diagnostic challenge of mild citrulline elevation at newborn screening

Autor: Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, Giovanna Cotugno, Silvia Di Michele, Teresa Giovanniello, Giancarlo La Marca, Francesca Romana Lepri, Antonio Novelli, Claudia Rossi, Michela Semeraro, Carlo Dionisi-Vici

Publikováno v: Molecular genetics and metabolism. 135(4)

Citrulline is a target analyte measured at expanded newborn screening (NBS) and its elevation represents a biomarker for distal urea cycle disorders and citrin deficiency. Altered ratios of citrulline with other urea cycle-related amino acids are hel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b7a214295686a546f7a223f8abcf66a
https://pubmed.ncbi.nlm.nih.gov/35279366

Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test

Autor: Amelia Pasquali, Antonio Angeloni, Vincenzo Leuzzi, Sirio D'Amici, Cristiana Artiola, Carla Carducci, Teresa Giovanniello, Claudia Carducci, Manuela Tolve, Antonio Pizzuti

Publikováno v: Methods and Protocols

Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations. Using this method to det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b2f75e44213fa7470302c57f438c1a1
http://hdl.handle.net/11573/1135630

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia

Autor: Vanise Campos Gomes Amaral, Carla Carducci, Rosana Herminia Scola, Teresa Giovanniello, Lineu Cesar Werneck, Hélio A.G. Teive, Paulo José Lorenzoni

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 65, Issue: 4b, Pages: 1224-1227, Published: DEC 2007
Arquivos de Neuro-Psiquiatria v.65 n.4b 2007
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We repo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9263ae3c84adcc4f64c10072838e3b14
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000700026&lng=en&tlng=en

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry

Autor: Roberta Battini, Vincenzo Leuzzi, Italo Antonozzi, Teresa Giovanniello, Silvia Santagata, Cristiana Artiola, Claudia Carducci, Carla Carducci

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 364(1-2)

Background Guanidinoacetate (GAA) and creatine (Cr) are reliable biochemical markers of primary creatine disorders. The aim of this study was to develop and validate a method for the determination of GAA and Cr in dried blood spot through the use of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a155e4ddfcf7a99e00b2cd187d4148c
https://pubmed.ncbi.nlm.nih.gov/16197934