Works matching IS 01418955 AND DT 2024 AND VI 47 AND IP 1

Results: 17

Liver‐directed gene therapy for inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 9, doi. 10.1002/jimd.12709

By:

Baruteau, Julien;
Brunetti‐Pierri, Nicola;
Gissen, Paul

Publication type:

Article

Mission possible: Gene therapy for inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 5, doi. 10.1002/jimd.12708

By:

Baruteau, Julien;
Keshavan, Nandaki;
Venditti, Charles P.

Publication type:

Article

Whole genome sequencing to screen 100 000 newborns for treatable genetic disorders.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 7, doi. 10.1002/jimd.12704

By:

Rahman, Shamima;
Bick, David;
Scott, Richard H.

Publication type:

Article

Gene therapy for mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 145, doi. 10.1002/jimd.12699

By:

Keshavan, Nandaki;
Minczuk, Michal;
Viscomi, Carlo;
Rahman, Shamima

Publication type:

Article

Gene therapy for neurotransmitter‐related disorders.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 176, doi. 10.1002/jimd.12697

By:

Chu, Wing Sum;
Ng, Joanne;
Waddington, Simon N.;
Kurian, Manju A.

Publication type:

Article

Correction to Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study.

Published in:: Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 212, doi. 10.1002/jimd.12685
Publication type:: Article

Correction to "Clinical presentation of 13 children with alkaptonuria".

Published in:: Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 211, doi. 10.1002/jimd.12683
Publication type:: Article

Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 63, doi. 10.1002/jimd.12665

By:

Chandler, Randy J.;
Venditti, Charles P.

Publication type:

Article

Fetal gene therapy.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 192, doi. 10.1002/jimd.12659

By:

Waddington, Simon N.;
Peranteau, William H.;
Rahim, Ahad A.;
Boyle, Ashley K.;
Kurian, Manju A.;
Gissen, Paul;
Chan, Jerry K. Y.;
David, Anna L.

Publication type:

Article

Gene therapy for glycogen storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 93, doi. 10.1002/jimd.12654

By:

Koeberl, Dwight D.;
Koch, Rebecca L.;
Lim, Jeong‐A.;
Brooks, Elizabeth D.;
Arnson, Benjamin D.;
Sun, Baodong;
Kishnani, Priya S.

Publication type:

Article

State‐of‐the‐art 2023 on gene therapy for phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 80, doi. 10.1002/jimd.12651

By:

Martinez, Michael;
Harding, Cary O.;
Schwank, Gerald;
Thöny, Beat

Publication type:

Article

Liver directed adeno‐associated viral vectors to treat metabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 22, doi. 10.1002/jimd.12637

By:

Chuecos, Marcel A.;
Lagor, William R.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 1, doi. 10.1002/jimd.12627
Publication type:: Article

Gene therapies for mucopolysaccharidoses.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 135, doi. 10.1002/jimd.12626

By:

Rossi, Alessandro;
Brunetti‐Pierri, Nicola

Publication type:

Article

Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa<sup>−/−</sup> mice.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 119, doi. 10.1002/jimd.12625

By:

Sellier, P.;
Vidal, P.;
Bertin, B.;
Gicquel, E.;
Bertil‐Froidevaux, E.;
Georger, C.;
van Wittenberghe, L.;
Miranda, A.;
Daniele, N.;
Richard, I.;
Gross, D. A.;
Mingozzi, F.;
Collaud, F.;
Ronzitti, G.

Publication type:

Article

Gene therapy for urea cycle defects: An update from historical perspectives to future prospects.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 50, doi. 10.1002/jimd.12609

By:

Duff, Claire;
Alexander, Ian E.;
Baruteau, Julien

Publication type:

Article

Successful treatment of severe MSUD in Bckdhb<sup>−/−</sup> mice with neonatal AAV gene therapy.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 41, doi. 10.1002/jimd.12604

By:

Pontoizeau, Clément;
Gaborit, Clovis;
Tual, Nolan;
Simon‐Sola, Marcelo;
Rotaru, Irina;
Benoist, Marion;
Colella, Pasqualina;
Lamazière, Antonin;
Brassier, Anaïs;
Arnoux, Jean‐Baptiste;
Rötig, Agnès;
Ottolenghi, Chris;
de Lonlay, Pascale;
Mingozzi, Federico;
Cavazzana, Marina;
Schiff, Manuel

Publication type:

Article