Works matching IS 21928312 AND DT 2023 AND VI 64 AND IP 5

Results: 13

Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 393, doi. 10.1002/jmd2.12391

By:

Hannah, William B.;
Case, Laura E.;
Smith, Edward C.;
Walters, Crista;
Bali, Deeksha;
Kishnani, Priya S.;
Koeberl, Dwight D.

Publication type:

Article

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 337, doi. 10.1002/jmd2.12390

By:

Heath, Oliver;
Pandithan, Dinusha;
Pitt, James;
Savva, Elena;
Raiti, Laura;
Bracken, Jenny;
Vandeleur, Moya;
Delatycki, Martin B.;
Yaplito‐Lee, Joy;
Hardikar, Winita;
Halligan, Rebecca

Publication type:

Article

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 327, doi. 10.1002/jmd2.12389

By:

Adams, Louisa;
Selvanathan, Arthavan;
Batten, Kiera J.;
van Doorn, Nancy;
Thompson, Susan;
Mitchell, Ashleigh;
Sampaio, Hugo;
Dalkeith, Troy;
Russell, Jacqui;
Ellaway, Carolyn J.;
Farrar, Michelle;
Broderick, Carolyn;
Bhattacharya, Kaustuv

Publication type:

Article

Aromatic l‐amino acid decarboxylase deficiency in Taiwan.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 387, doi. 10.1002/jmd2.12387

By:

Hwu, Wuh‐Liang;
Hsu, Rai‐Hseng;
Li, Mei‐Hsin;
Lee, Hui‐Min;
Chen, Hui‐An;
Lee, Ni‐Chung;
Chien, Yin‐Hsiu

Publication type:

Article

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 317, doi. 10.1002/jmd2.12386

By:

Yeo, Mildrid;
Rehsi, Preeya;
Dorman, Megan;
Grunewald, Stephanie;
Baruteau, Julien;
Chakrapani, Anupam;
Footitt, Emma;
Prunty, Helen;
McSweeney, Melanie

Publication type:

Article

Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 375, doi. 10.1002/jmd2.12385

By:

Chappell, McKenzie;
Parikh, Sumit;
Reynolds, Elizabeth

Publication type:

Article

A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 346, doi. 10.1002/jmd2.12378

By:

Horgan, Claire;
Watts, Kelly;
Ram, Dipak;
Rust, Stewart;
Hutton, Rebekah;
Jones, Simon;
Wynn, Rob

Publication type:

Article

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 367, doi. 10.1002/jmd2.12382

By:

Wongkittichote, Parith;
Cuddapah, Sanmati R.;
Master, Stephen R.;
Grange, Dorothy K.;
Dietzen, Dennis;
Roper, Stephen M.;
Ganetzky, Rebecca D.

Publication type:

Article

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 303, doi. 10.1002/jmd2.12381

By:

Jackson, David G.;
Koch, Rebecca L.;
Pendyal, Surekha;
Benjamin, Robert;
Kishnani, Priya S.

Publication type:

Article

Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 360, doi. 10.1002/jmd2.12380

By:

Tangeraas, Trine;
Kristensen, Erle;
Mørkrid, Lars;
Elind, Elisabeth;
Bliksrud, Yngve Thomas;
Eide, Lars

Publication type:

Article

Development of tools to facilitate the diagnosis of hereditary fructose intolerance.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 353, doi. 10.1002/jmd2.12379

By:

Panis, Bianca;
Janssen, Lise E. F.;
Lefeber, Dirk J.;
Simons, Nynke;
Rubio‐Gozalbo, M. Estela;
Brouwers, Martijn C. G. J.

Publication type:

Article

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 312, doi. 10.1002/jmd2.12384

By:

Alghamdi, Malak Ali;
O'Donnell‐Luria, Anne;
Almontashiri, Naif A.;
AlAali, Wajeih Y.;
Ali, Hebatallah H.;
Levy, Harvey L.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 301, doi. 10.1002/jmd2.12300
Publication type:: Article