Works matching IS 21928312 AND DT 2021 AND VI 62 AND IP 1

Results: 16

Corrigendum.

Published in:: 2021
Publication type:: Correction Notice

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 49, doi. 10.1002/jmd2.12252

By:

Paz, José A.;
Embiruçu, Emilia K.;
Bueno, Clarissa;
Ferreira, Rafaela C. C. L.;
Oliveira, Fernanda S.;
Pereira, Ane S. S.;
Schwartz, Ida V. D.;
Paiva, Anderson R. B.;
Lucato, Leandro T.;
Kok, Fernando

Publication type:

Article

Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia.

Published in:

2021

By:

Leuger, Laurent;
Dieu, Xavier;
Chao de la Barca, Juan Manuel;
Moriconi, Mikael;
Halley, Guillaume;
Donin de Rosière, Xavier;
Reynier, Pascal;
Mirebeau‐Prunier, Delphine;
Homedan, Chadi

Publication type:

Case Study

HSD10 disease in a female: A case report and review of literature.

Published in:

2021

By:

Upadia, Jariya;
Walano, Nicolette;
Noh, Grace S.;
Liu, Jiao;
Li, Yuwen;
Deputy, Stephen;
Elliott, Lindsay T.;
Wong, Joaquin;
Lee, Jennifer A.;
Caylor, Raymond C.;
Andersson, Hans C.

Publication type:

Case Study

Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 30, doi. 10.1002/jmd2.12249

By:

Rana, Mandeep;
Cuttin, Karen;
Berry, Gerard T.;
Torres, Alcy

Publication type:

Article

Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.

Published in:

2021

By:

Alghamdi, Malak A.;
Tohary, Mohammed;
Alzaidan, Hamad;
Imtiaz, Faiqa;
Al‐Hassnan, Zuhair N.

Publication type:

Case Study

Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient.

Published in:

2021

By:

Lebredonchel, Elodie;
Duvet, Sandrine;
Douillard, Claire;
Foulquier, François;
Klein, André

Publication type:

Case Study

A stone in the bone.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 6, doi. 10.1002/jmd2.12246

By:

Halfon, Matthieu;
Cochat, Pierre;
Kissling, Sebastien;
Dattner, Nicolas;
de Leval, Laurence;
Fakhouri, Fadi;
Pruijm, Menno;
Bonny, Olivier

Publication type:

Article

Method comparison of beta‐hydroxybutyrate point‐of‐care testing to serum in healthy children.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 85, doi. 10.1002/jmd2.12245

By:

Parmar, Komalben;
Mosha, Maua;
Weinstein, David A.;
Riba‐Wolman, Rebecca

Publication type:

Article

Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 74, doi. 10.1002/jmd2.12244

By:

Bohnert, Kathryn L.;
Ditzenberger, Grace;
Bittel, Adam J.;
de las Fuentes, Lisa;
Corti, Manuela;
Pacak, Christina A.;
Taylor, Carolyn;
Byrne, Barry J.;
Reeds, Dominic N.;
Cade, W. Todd

Publication type:

Article

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 15, doi. 10.1002/jmd2.12242

By:

Eskes, Eline C. B.;
van der Lienden, Martijn J. C.;
Roelofs, Joris J. T. H.;
Vogt, Liffert;
Aerts, Johannes M. F. G.;
Aten, Jan;
Hollak, Carla E. M.

Publication type:

Article

Ketotic hypoglycemia in patients with Down syndrome.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 70, doi. 10.1002/jmd2.12241

By:

Drachmann, Danielle;
Carrigg, Austin;
Weinstein, David A.;
Petersen, Jacob Sten;
Christesen, Henrik Thybo

Publication type:

Article

Health‐related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 56, doi. 10.1002/jmd2.12240

By:

Pihlstrøm, Hege Kampen;
Weedon‐Fekjær, Mina Susanne;
Bjerkely, Birgitte Leisner;
von der Lippe, Charlotte;
Ørstavik, Kristin;
Mathisen, Per;
Heimdal, Ketil;
Jenssen, Trond Geir;
Dahle, Dag Olav;
Solberg, Olga Karin;
Sigurdardottir, Solrun

Publication type:

Article

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report.

Published in:

2021

By:

Tomita, Kazuyoshi;
Okamoto, Shungo;
Seto, Toshiyuki;
Hamazaki, Takashi;
So, Sairei;
Yamamoto, Tatsuyoshi;
Tanizawa, Kazunori;
Sonoda, Hiroyuki;
Sato, Yuji

Publication type:

Case Study

Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q<sub>10</sub> deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 3, doi. 10.1002/jmd2.12216

By:

Bellusci, Marcello;
García‐Silva, Maria Teresa;
Martínez de Aragón, Ana;
Martín, Miguel Angel

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 1, doi. 10.1002/jmd2.12143
Publication type:: Article