Works matching IS 21928312 AND DT 2020 AND VI 53 AND IP 1

Results: 17

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 1, doi. 10.1002/jmd2.12126
Publication type:: Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 1, doi. 10.1002/jmd2.12150
Publication type:: Article

Correction to: Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 111, doi. 10.1002/jmd2.12120
Publication type:: Article

Food insecurity in females with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 103, doi. 10.1002/jmd2.12115

By:

Coakley, Kathryn E.;
Porter‐Bolton, Suzanne;
Salvatore, Mary L.;
Blair, Rosalynn B.;
Singh, Rani H.

Publication type:

Article

Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 22, doi. 10.1002/jmd2.12114

By:

Wilton, Katelynn M.;
Morales‐Rosado, Joel A.;
Selcen, Duygu;
Muthusamy, Karthik;
Ewing, Sarah;
Agre, Katherine;
Nickels, Katherine;
Klee, Eric W.;
Ho, Mai‐Lan;
Morava, Eva

Publication type:

Article

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 16, doi. 10.1002/jmd2.12113

By:

Storgaard, Jesper H.;
Madsen, Karen L.;
Løkken, Nicoline;
Vissing, John;
Hall, Gerrit;
Lund, Allan M.;
Ørngreen, Mette C.

Publication type:

Article

Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 90, doi. 10.1002/jmd2.12112

By:

Laeremans, Hilde;
Turner, Charles;
Andersson, Tommy;
Juan, Jose Angel Cocho;
Gerrard, Adam;
Heiner‐Fokkema, M. Rebecca;
Herebian, Diran;
Janzen, Nils;
Marca, Giancarlo;
Rudebeck, Mattias

Publication type:

Article

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 12, doi. 10.1002/jmd2.12111

By:

Bijarnia‐Mahay, Sunita;
Jain, Vivek;
Thöny, Beat

Publication type:

Article

Ketogenic diet for treating alopecia in BCS1l‐related mitochondrial disease (Bjornstad syndrome).

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 10, doi. 10.1002/jmd2.12109

By:

Della Marina, Adela;
Leiendecker, Baerbel;
Roesch, Sebastian;
Wortmann, Saskia B.

Publication type:

Article

NGLY1 deficiency—A rare congenital disorder of deglycosylation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 2, doi. 10.1002/jmd2.12108

By:

Lipari Pinto, Patrícia;
Machado, Catarina;
Janeiro, Patrícia;
Dupont, Juliette;
Quintas, Sofia;
Sousa, Ana Berta;
Gaspar, Ana

Publication type:

Article

Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 83, doi. 10.1002/jmd2.12106

By:

Hansen, Joyanna;
Hollander, Suzanne;
Drilias, Nicoletta;
Van Calcar, Sandra;
Rohr, Fran;
Bernstein, Laurie

Publication type:

Article

ATP6AP1‐CDG: Follow‐up and female phenotype.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 80, doi. 10.1002/jmd2.12104

By:

Lipiński, Patryk;
Rokicki, Dariusz;
Bogdańska, Anna;
Lesiak, Justyna;
Lefeber, Dirk J.;
Tylki‐Szymańska, Anna

Publication type:

Article

A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 71, doi. 10.1002/jmd2.12101

By:

Rudebeck, Mattias;
Scott, Ciarán;
Sireau, Nicolas;
Ranganath, Lakshminarayan

Publication type:

Article

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 61, doi. 10.1002/jmd2.12099

By:

Staps, Pippa;
Gaalen, Judith;
Domburg, Peter.;
Steijlen, Peter M.;
Ferdinandusse, Sacha;
Heijer, Tom;
Seyger, Marieke M. B.;
Theelen, Thomas;
Willemsen, Michèl A. A. P.

Publication type:

Article

The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 45, doi. 10.1002/jmd2.12084

By:

Judd, Shirley;
Khedr, Milad;
Milan, Anna M.;
Davison, Andrew S.;
Hughes, Andrew T.;
Needham, Alexander;
Psarelli, Eftychia E.;
Shenkin, Alan;
Ranganath, Lakshiminaryan R.

Publication type:

Article

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 39, doi. 10.1002/jmd2.12082

By:

Kamenets, Elena A.;
Gusarova, Elena A.;
Milovanova, Natalia V.;
Itkis, Yulia S.;
Strokova, Tatiana V.;
Melikyan, Maria A.;
Garyaeva, Irina V.;
Rybkina, Irina G.;
Nikitina, Natalia V.;
Zakharova, Ekaterina Y.

Publication type:

Article

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 29, doi. 10.1002/jmd2.12075

By:

Brown, Madalyn;
Turgeon, Coleman;
Rinaldo, Piero;
Pop, Ana;
Salomons, Gajja S.;
Roullet, Jean‐Baptiste;
Gibson, K. Michael

Publication type:

Article