Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 4

Results: 15

Recent advances in liver transplantation for metabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 491, doi. 10.1007/s10545-017-0020-z

By:

Mc Kiernan, P.

Publication type:

Article

MtDNA-maintenance defects: syndromes and genes.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 587, doi. 10.1007/s10545-017-0027-5

By:

Viscomi, Carlo;
Zeviani, Massimo

Publication type:

Article

Inherited disorders of transition metal metabolism: an update.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 519, doi. 10.1007/s10545-017-0030-x

By:

Clayton, Peter

Publication type:

Article

Molecular therapy of primary hyperoxaluria.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 481, doi. 10.1007/s10545-017-0045-3

By:

Martin-Higueras, Cristina;
Torres, Armando;
Salido, Eduardo

Publication type:

Article

What is new in CDG?

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 569, doi. 10.1007/s10545-017-0050-6

By:

Jaeken, Jaak;
Péanne, Romain

Publication type:

Article

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 543, doi. 10.1007/s10545-017-0052-4

By:

Penati, Rachele;
Fumagalli, Francesca;
Calbi, Valeria;
Bernardo, Maria;
Aiuti, Alessandro

Publication type:

Article

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 497, doi. 10.1007/s10545-017-0053-3

By:

Baruteau, Julien;
Waddington, Simon;
Alexander, Ian;
Gissen, Paul

Publication type:

Article

High-content drug screening for rare diseases.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 601, doi. 10.1007/s10545-017-0055-1

By:

Bellomo, F.;
Medina, D.;
De Leo, E.;
Panarella, A.;
Emma, F.

Publication type:

Article

News and views.

Published in:

2017

By:

Witters, Peter

Publication type:

Report

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 531, doi. 10.1007/s10545-017-0059-x

By:

Maiorana, Arianna;
Dionisi-Vici, Carlo

Publication type:

Article

Cysteamine revisited: repair of arginine to cysteine mutations.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 555, doi. 10.1007/s10545-017-0060-4

By:

Gallego-Villar, L.;
Hannibal, L.;
Häberle, J.;
Thöny, B.;
Ben-Omran, T.;
Nasrallah, G.;
Dewik, Al-N.;
Kruger, W.;
Blom, H.

Publication type:

Article

News and views.

Published in:

2017

By:

Houten, Sander

Publication type:

Report

Amino acid synthesis deficiencies.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 609, doi. 10.1007/s10545-017-0063-1

By:

Koning, T.

Publication type:

Article

Erratum to: What is new in CDG?

Published in:

2017

By:

Jaeken, Jaak;
Péanne, Romain

Publication type:

Erratum

Role of miRNAs in human disease and inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 471, doi. 10.1007/s10545-017-0018-6

By:

Rivera-Barahona, Ana;
Pérez, Belén;
Richard, Eva;
Desviat, Lourdes

Publication type:

Article