Works matching IS 21928312 AND DT 2019 AND VI 47 AND IP 1

Results: 9

Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 47, doi. 10.1002/jmd2.12033

By:

Langan, Thomas J.;
Barczykowski, Amy;
Jalal, Kabir;
Sherwood, Laura;
Allewelt, Heather;
Kurtzberg, Joanne;
Carter, Randy L.

Publication type:

Article

A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 23, doi. 10.1002/jmd2.12032

By:

Kwong, Anna K.‐Y.;
Chiu, Annie T.‐G.;
Tsang, Mandy H.‐Y.;
Lun, Kin‐Shing;
Rodenburg, Richard J. T.;
Smeitink, Jan;
Chung, Brian H.‐Y.;
Fung, Cheuk‐Wing

Publication type:

Article

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 9, doi. 10.1002/jmd2.12030

By:

Padmakumar, Manisha;
Jaeken, Jaak;
Ramaekers, Vincent;
Lagae, Lieven;
Greene, Daniel;
Thys, Chantal;
Van Geet, Chris;
BioResource, NIHR;
Stirrups, Kathleen;
Downes, Kate;
Turro, Ernest;
Freson, Kathleen

Publication type:

Article

Glycogen storage disease presenting as Cushing syndrome.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 17, doi. 10.1002/jmd2.12031

By:

Stefater, Margaret A.;
Wolfsdorf, Joseph I.;
Ma, Nina S.;
Majzoub, Joseph A.

Publication type:

Article

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 41, doi. 10.1002/jmd2.12029

By:

Allen, John;
Power, Bronwyn;
Abedin, Aida;
Purcell, Orla;
Knerr, Ina;
Monavari, Ahmad

Publication type:

Article

The genetic and biochemical basis of trimethylaminuria in an Irish cohort.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 35, doi. 10.1002/jmd2.12028

By:

Doyle, Samantha;
O'Byrne, James J.;
Nesbitt, Mandy;
Murphy, Daniel N.;
Abidin, Zaza;
Byrne, Niall;
Pastores, Gregory;
Kirk, Richard;
Treacy, Eileen P.

Publication type:

Article

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 30, doi. 10.1002/jmd2.12026

By:

Peters, Verena;
Morath, Marina;
Mack, Matthias;
Liesert, Michael;
Buckel, Wolfgang;
Hoffmann, Georg F.;
Vockley, Jerry;
Ghisla, Sandro;
Zschocke, Johannes

Publication type:

Article

A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 4, doi. 10.1002/jmd2.12027

By:

Brío Castillo, Rodrigo;
Squires, James E.;
McKiernan, Patrick J.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 1, doi. 10.1002/jmd2.12001
Publication type:: Article