Works matching IS 21928312 AND DT 2022 AND VI 63 AND IP 1

Results: 12

Acute and early developmental outcomes of children with Duarte galactosemia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 101, doi. 10.1002/jmd2.12267

By:

Fridovich‐Keil, Judith L.;
Carlock, Grace;
Patel, Sneh;
Potter, Nancy L.;
Coles, Claire D.

Publication type:

Article

Two siblings with galactose mutarotase deficiency: Clinical differences.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 25, doi. 10.1002/jmd2.12263

By:

Yazici, Havva;
Canda, Ebru;
Altınok, Yasemin Atik;
Ucar, Sema Kalkan;
Coker, Mahmut

Publication type:

Article

Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 93, doi. 10.1002/jmd2.12262

By:

Tsitsi, Panagiota;
Markaki, Ioanna;
Waldthaler, Josefine;
Machaczka, Maciej;
Svenningsson, Per

Publication type:

Article

Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 80, doi. 10.1002/jmd2.12261

By:

Ranganath, Lakshminarayan R.;
Milan, Anna M.;
Hughes, Andrew T.;
Khedr, Milad;
Norman, Brendan P.;
Alsbou, Mohammed;
Imrich, Richard;
Gornall, Matthew;
Sireau, Nicolas;
Gallagher, James A.;
Jackson, Richard

Publication type:

Article

Cysteamine bitartrate delayed‐release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open‐label study of treatment‐naïve patients <6 years of age with nephropathic cystinosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 66, doi. 10.1002/jmd2.12260

By:

Vaisbich, Maria Helena;
Caires Ferreira, Juliana;
Price, Heather;
Young, Kyleen D.;
Sile, Saba;
Checani, Gregg;
Langman, Craig B.

Publication type:

Article

Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 19, doi. 10.1002/jmd2.12259

By:

Ikeda, Takahiro;
Kawahara, Yuta;
Miyauchi, Akihiko;
Niijima, Hitomi;
Furukawa, Rieko;
Shimozawa, Nobuyuki;
Morimoto, Akira;
Osaka, Hitoshi;
Yamagata, Takanori

Publication type:

Article

Chronic lithium administration in a mouse model for Krabbe disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 50, doi. 10.1002/jmd2.12258

By:

Del Grosso, Ambra;
Parlanti, Gabriele;
Angella, Lucia;
Giordano, Nadia;
Tonazzini, Ilaria;
Ottalagana, Elisa;
Carpi, Sara;
Pellegrino, Roberto Maria;
Alabed, Husam B. R.;
Emiliani, Carla;
Caleo, Matteo;
Cecchini, Marco

Publication type:

Article

Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 41, doi. 10.1002/jmd2.12255

By:

Olsson, Birgitta;
Ranganath, Lakshminarayan;
Arnoux, Jean‐Baptiste;
Imrich, Richard;
Milan, Anna;
Rudebeck, Mattias

Publication type:

Article

Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 11, doi. 10.1002/jmd2.12254

By:

Goodison, William;
Baron, Fred;
Seary, Coralie;
Murphy, Elaine;
Lachmann, Robin;
Stevenson, Valerie L.

Publication type:

Article

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐reported outcome measures.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 29, doi. 10.1002/jmd2.12253

By:

Venema, Annieke;
Peeks, Fabian;
de Bruijn‐van der Veen, Marlies;
de Boer, Foekje;
Fokkert‐Wilts, Marieke J.;
Lubout, Charlotte M. A.;
Huskens, Bibi;
Dumont, Eric;
Mulkens, Sandra;
Derks, Terry G. J.

Publication type:

Article

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 3, doi. 10.1002/jmd2.12243

By:

Shelihan, Ivan;
Rossignol, Elsa;
Décarie, Jean‐Claude;
Bonnefont, Jean‐Paul;
Brivet, Michèle;
Brunel‐Guitton, Catherine;
Mitchell, Grant A.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 1, doi. 10.1002/jmd2.12226
Publication type:: Article