Works matching IS 21928312 AND DT 2020 AND VI 54 AND IP 1

Results: 14

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 1, doi. 10.1002/jmd2.12150
Publication type:: Article

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 87, doi. 10.1002/jmd2.12128

By:

Kuper, Willemijn F. E.;
Oostendorp, Marlies;
van den Broek, Brigitte T. A.;
van Veghel, Karin;
Nonkes, Lourens J. P.;
Nieuwenhuis, Edward E. S.;
Fuchs, Sabine A.;
Veenendaal, Tineke;
Klumperman, Judith;
Huisman, Albert;
Nierkens, Stefan;
van Hasselt, Peter M.

Publication type:

Article

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 32, doi. 10.1002/jmd2.12127

By:

Yi, Fan;
Poskanzer, Sheri A.;
Myers, Candace T.;
Thies, Jenny;
Collins, Christopher J.;
Dayuha, Remwilyn;
Duong, Phi;
Houwen, Roderick;
Hahn, Si Houn

Publication type:

Article

Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 25, doi. 10.1002/jmd2.12125

By:

Matarazzo, Lorenza;
Ragnoni, Valentina;
Malaventura, Cristina;
Leon, Alberta;
Colavito, Davide;
Vigna, Giovanni Battista;
Lanza, Giovanni;
Sonzogni, Aurelio;
Maggiore, Giuseppe

Publication type:

Article

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 68, doi. 10.1002/jmd2.12124

By:

Stroek, Kevin;
Boelen, Anita;
Bouva, Marelle J.;
De Sain‐van der Velden, Monique;
Schielen, Peter C. J. I.;
Maase, Rose;
Engel, Henk;
Jakobs, Bernadette;
Kluijtmans, Leo A. J.;
Mulder, Margot F.;
Rubio‐Gozalbo, M. E.;
Spronsen, Francjan J.;
Visser, Gepke;
Vries, Maaike C.;
Williams, Monique;
Heijboer, Annemieke C.;
Kemper, Evelien A.;
Bosch, Annet M.

Publication type:

Article

An uncommon cause of early infantile liver disease and raised chitotriosidase.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 22, doi. 10.1002/jmd2.12123

By:

Sreekantam, Srividya;
Rizvi, Hina;
Brown, Rachel;
Santra, Saikat;
Raiman, Julian;
Vijay, Suresh;
Mckiernan, Patrick J.;
Gupte, Girish L.

Publication type:

Article

PMM2‐CDG caused by uniparental disomy: Case report and literature review.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 16, doi. 10.1002/jmd2.12122

By:

Vaes, Laurien;
Tiller, George E.;
Pérez, Belén;
Boyer, Suzanne W.;
Berry, Susan A.;
Sarafoglou, Kyriakie;
Morava, Eva

Publication type:

Article

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 9, doi. 10.1002/jmd2.12121

By:

Kava, Maina P.;
Bryant, Leah;
Rowe, Peter;
Lewis, Barry;
Greed, Lawrence;
Balasubramaniam, Shanti

Publication type:

Article

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 3, doi. 10.1002/jmd2.12119

By:

Berry, Gerard T.;
Blume, Elizabeth D.;
Wessel, Ann;
Singh, Tajinder;
Hecht, Leah;
Marsden, Deborah;
Sahai, Inderneel;
Elisofon, Scott;
Ferguson, Michael;
Kim, Heung Bae;
Harris, David J.;
Demirbas, Didem;
Almuqbil, Mohammed;
Nyhan, William L.

Publication type:

Article

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 79, doi. 10.1002/jmd2.12118

By:

Václavík, Jan;
Mádrová, Lucie;
Kouřil, Štěpán;
de Sousa, Julie;
Brumarová, Radana;
Janečková, Hana;
Jáčová, Jaroslava;
Friedecký, David;
Knapková, Mária;
Kluijtmans, Leo A. J.;
Grünert, Sarah C.;
Vaz, Frédéric M.;
Janzen, Nils;
Wanders, Ronald J. A.;
Wevers, Ron A.;
Adam, Tomáš

Publication type:

Article

The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 61, doi. 10.1002/jmd2.12117

By:

Wenger, David A.;
Luzi, Paola

Publication type:

Article

Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 54, doi. 10.1002/jmd2.12116

By:

Adams, Darius;
Midei, Mark;
Dastgir, Jahannaz;
Flora, Christina;
Molinari, Robert J;
Heerinckx, Frederic;
Endemann, Sarah;
Atwal, Paldeep;
Milner, Peter;
Shchepinov, Mikhail S.

Publication type:

Article

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 45, doi. 10.1002/jmd2.12107

By:

Cotta, Ana;
Alston, Charlotte L.;
Baptista‐Junior, Sidney;
Paim, Julia F.;
Carvalho, Elmano;
Navarro, Monica M.;
Appleton, Marie;
Ng, Yi Shiau;
Valicek, Jaquelin;
da‐Cunha‐Junior, Antonio L.;
Lima, Maria I.;
Rocque Ferreira, Alessandra;
Takata, Reinaldo I.;
Hargreaves, Iain P.;
Gorman, Gráinne S.;
McFarland, Robert;
Pierre, Germaine;
Taylor, Robert W.

Publication type:

Article

COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 37, doi. 10.1002/jmd2.12068

By:

Justine Perrin, R.;
Rousset‐Rouvière, Caroline;
Garaix, Florentine;
Cano, Aline;
Conrath, John;
Boyer, Olivia;
Tsimaratos, Michel

Publication type:

Article