Publications:

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Endocrinology, Diabetes & Metabolism

Rovelli, Valentina V; Cefalo, Graziella G; Ercoli, Vittoria V; Zuvadelli, Juri J; Olivia, Turri T; Graziani, Daniela D; Luisella, Alberti A; Bassi, Davide D; Re Dionigi, Alice A; Selmi, Raed R; Paci, Sabrina S; Salvatici, Elisabetta E; Banderali, Giuseppe G

Publication Date: 2022-12-19

Variant appearance in text: PTS: His49Arg

PubMed Link: 36537053

Variant Present in the following documents:

• Main text
• EDM2-6-e396.pdf

View BVdb publication page

BH4-deficient hyperphenylalaninemia in Russia.

Plos One

Gundorova, Polina P; Kuznetcova, Irina A IA; Baydakova, Galina V GV; Stepanova, Anna A AA; Itkis, Yulia S YS; Kakaulina, Victoria S VS; Alferova, Irina P IP; Lyazina, Lidya V LV; Andreeva, Lilya P LP; Kanivets, Ilya I; Zakharova, Ekaterina Y EY; Kutsev, Sergey I SI; Polyakov, Aleksander V AV

Publication Date: 2021

Variant appearance in text: PTS: 146A>G; His49Arg

PubMed Link: 33822819

Variant Present in the following documents:

• Main text
• pone.0249608.pdf

View BVdb publication page

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

Molecular Genetics And Metabolism

Manzoni, Francesca F; Salvatici, Elisabetta E; Burlina, Alberto A; Andrews, Ashley A; Pasquali, Marzia M; Longo, Nicola N

Publication Date: 2020-12

Variant appearance in text: PTPS: 146A>G

PubMed Link: 33234470

Variant Present in the following documents:

• Main text

View BVdb publication page