Works matching IS 21928312 AND DT 2021 AND VI 58 AND IP 1

Results: 16

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 80, doi. 10.1002/jmd2.12189

By:

Beck‐Wödl, Stefanie;
Kehrer, Christiane;
Harzer, Klaus;
Haack, Tobias B.;
Bürger, Friederike;
Haas, Dorothea;
Rieß, Angelika;
Groeschel, Samuel;
Krägeloh‐Mann, Ingeborg;
Böhringer, Judith

Publication type:

Article

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 114, doi. 10.1002/jmd2.12194

By:

Peters, Tessa M. A.;
Lammerts van Bueren, Irma;
Geurtz, Ben P.B.H.;
Coene, Karlien L. M.;
Leeuw, Nicole;
Brunner, Han G.;
Jónsson, Jón J.;
Willemsen, Michèl A. A. P.;
Wevers, Ron A.;
Verbeek, Marcel M.

Publication type:

Article

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 104, doi. 10.1002/jmd2.12192

By:

Politei, Juan;
Porras‐Hurtado, Gloria Liliana;
Guelbert, Norberto;
Fainboim, Alejandro;
Horovitz, Dafne Dain Gandelman;
Satizábal, José María

Publication type:

Article

Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease).

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 100, doi. 10.1002/jmd2.12191

By:

Nonkes, Lourens J. P.;
Kuper, Willemijn F. E.;
Berrens‐Hogenbirk, Karin;
Musson, Ruben E. A.;
Hasselt, Peter M.;
Huisman, Albert

Publication type:

Article

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 89, doi. 10.1002/jmd2.12190

By:

Lund, Troy C.;
Doherty, Terence M.;
Eisengart, Julie B.;
Freese, Rebecca L.;
Rudser, Kyle D.;
Fung, Ellen B.;
Miller, Bradley S.;
White, Klane K.;
Orchard, Paul J.;
Whitley, Chester B.;
Polgreen, Lynda E.

Publication type:

Article

SLC37A4‐CDG: Second patient.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 122, doi. 10.1002/jmd2.12195

By:

Wilson, Matthew P.;
Quelhas, Dulce;
Leão‐Teles, Elisa;
Sturiale, Luisa;
Rymen, Daisy;
Keldermans, Liesbeth;
Race, Valérie;
Souche, Erika;
Rodrigues, Esmeralda;
Campos, Teresa;
Van Schaftingen, Emile;
Foulquier, François;
Garozzo, Domenico;
Matthijs, Gert;
Jaeken, Jaak

Publication type:

Article

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 21, doi. 10.1002/jmd2.12188

By:

Perales‐Clemente, Ester;
Hewitt, Angela L.;
Studinski, April L.;
Tillema, Jan‐Mendelt;
Laxen, William J.;
Oglesbee, Devin;
Graff, Arne H.;
Rinaldo, Piero;
Lanpher, Brendan C.

Publication type:

Article

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 12, doi. 10.1002/jmd2.12187

By:

Foran, Jason;
Moore, Michael;
Crushell, Ellen;
Knerr, Ina;
McSweeney, Niamh

Publication type:

Article

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 70, doi. 10.1002/jmd2.12186

By:

Coene, Karlien L. M.;
Timmer, Corrie;
Goorden, Susan M. I.;
Hoedt, Amber E.;
Kluijtmans, Leo A. J.;
Janssen, Mirian C. H.;
Rennings, Alexander J. M.;
Prinsen, Hubertus C. M. T.;
Wamelink, Mirjam M. C.;
Ruijter, George J. G.;
Körver‐Keularts, Irene M. L. W.;
Heiner‐Fokkema, M. Rebecca;
Spronsen, Francjan J.;
Hollak, Carla E.;
Vaz, Frédéric M.;
Bosch, Annet M.;
Huigen, Marleen C. D. G.

Publication type:

Article

Isomerization of trans‐3‐methylglutaconic acid.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 61, doi. 10.1002/jmd2.12185

By:

Jones, Dylan E.;
Ricker, J. David;
Geary, Laina M.;
Kosma, Dylan K.;
Ryan, Robert O.

Publication type:

Article

Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2‐dioxygenase deficiency in the liver is responsible for homogentisic acid‐derived ochronotic pigmentation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 52, doi. 10.1002/jmd2.12184

By:

Wilson, Peter J. M.;
Ranganath, Lakshminarayan R.;
Bou‐Gharios, George;
Gallagher, James A.;
Hughes, Juliette H.

Publication type:

Article

Early‐onset vitamin B<sub>6</sub>‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 3, doi. 10.1002/jmd2.12183

By:

Heath, Oliver;
Pitt, James;
Mandelstam, Simone;
Kuschel, Carl;
Vasudevan, Anand;
Donoghue, Sarah

Publication type:

Article

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 44, doi. 10.1002/jmd2.12182

By:

Lucienne, Marie;
Mathis, Déborah;
Perkins, Nathan;
Fingerhut, Ralph;
Baumgartner, Matthias R.;
Froese, D. Sean

Publication type:

Article

Diurnal variability of glucose tetrasaccharide (Glc<sub>4</sub>) excretion in patients with glycogen storage disease type III.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 37, doi. 10.1002/jmd2.12181

By:

Young, Sarah P.;
Khan, Aleena;
Stefanescu, Ela;
Seifts, Andrea M.;
Hijazi, Ghada;
Austin, Stephanie;
Kishnani, Priya S.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 1, doi. 10.1002/jmd2.12139
Publication type:: Article

Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 29, doi. 10.1002/jmd2.12133

By:

Medjkane, François;
Bohet, Marine;
Ister, Marielle;
Cohen, David;
Parenti, Aesa;
Janati, Majda;
Mention, Karine;
Dobbelaere, Dries;
Jardri, Renaud

Publication type:

Article