Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 1

Results: 14

"Old Roads—New Connections" SSIEM 2018 Annual Symposium in Athens.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 1, doi. 10.1002/jimd.12212

By:

Michelakakis, Helen

Publication type:

Article

Inborn errors of metabolism leading to neuronal migration defects.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 145, doi. 10.1002/jimd.12194

By:

Schiller, Stina;
Rosewich, Hendrik;
Grünewald, Stephanie;
Gärtner, Jutta

Publication type:

Article

Inborn errors of metabolite repair.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 14, doi. 10.1002/jimd.12187

By:

Veiga‐da‐Cunha, Maria;
Van Schaftingen, Emile;
Bommer, Guido T.

Publication type:

Article

ERRATUM.

Published in:: 2020
Publication type:: Correction Notice

The effectiveness of correcting abnormal metabolic profiles.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 2, doi. 10.1002/jimd.12139

By:

Clayton, Peter Theodore

Publication type:

Article

Treating lysosomal storage disorders: What have we learnt?

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 125, doi. 10.1002/jimd.12131

By:

Lachmann, Robin H.

Publication type:

Article

The diagnosis of inborn errors of metabolism by an integrative "multi‐omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 25, doi. 10.1002/jimd.12130

By:

Stenton, Sarah L.;
Kremer, Laura S.;
Kopajtich, Robert;
Ludwig, Christina;
Prokisch, Holger

Publication type:

Article

CDG and immune response: From bedside to bench and back.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 90, doi. 10.1002/jimd.12126

By:

Pascoal, Carlota;
Francisco, Rita;
Ferro, Tiago;
dos Reis Ferreira, Vanessa;
Jaeken, Jaak;
Videira, Paula A.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. N.PAG, doi. 10.1002/jimd.12112
Publication type:: Article

Recent advances in understanding the molecular genetic basis of mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 36, doi. 10.1002/jimd.12104

By:

Thompson, Kyle;
Collier, Jack J.;
Glasgow, Ruth I. C.;
Robertson, Fiona M.;
Pyle, Angela;
Blakely, Emma L.;
Alston, Charlotte L.;
Oláhová, Monika;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Bone development and remodeling in metabolic disorders.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 133, doi. 10.1002/jimd.12097

By:

Serra‐Vinardell, Jenny;
Roca‐Ayats, Neus;
De‐Ugarte, Laura;
Vilageliu, Lluïsa;
Balcells, Susanna;
Grinberg, Daniel

Publication type:

Article

Exploiting epigenetics for the treatment of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 63, doi. 10.1002/jimd.12093

By:

Rutten, Martijn G. S.;
Rots, Marianne G.;
Oosterveer, Maaike H.

Publication type:

Article

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 51, doi. 10.1002/jimd.12084

By:

Teinert, Julian;
Behne, Robert;
Wimmer, Miriam;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Organelle interplay—peroxisome interactions in health and disease.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 71, doi. 10.1002/jimd.12083

By:

Schrader, Michael;
Kamoshita, Maki;
Islinger, Markus

Publication type:

Article