Works matching IS 21928312 AND DT 2024 AND VI 65 AND IP 5

Results: 8

Do early‐treated adults with phenylketonuria sense high phenylalanine levels?

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 5, p. 354, doi. 10.1002/jmd2.12446

By:

Hauri, Laura;
Muri, Raphaela;
Everts, Regula;
Trepp, Roman

Publication type:

Article

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 5, p. 330, doi. 10.1002/jmd2.12420

By:

Eskes, Eline C. B.;
van Dussen, Laura;
Aerts, Johannes M. F. G.;
van der Lienden, Martijn J. C.;
Maas, Mario;
Akkerman, Erik M.;
van Kuilenburg, André B. P.;
Sjouke, Barbara;
Hollak, Carla E. M.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 5, p. 295, doi. 10.1002/jmd2.12372
Publication type:: Article

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver.

Published in:

2024

By:

Mihaljević, Mihaela;
Petković Ramadža, Danijela;
Žigman, Tamara;
Rako, Ivana;
Galić, Slobodan;
Matić, Toni;
Rubić, Filip;
Čulo Čagalj, Ivana;
Mayer, Davor;
Gojević, Ante;
Ćavar, Stanko;
Ćorić, Marijana;
Achleitner, Melanie T.;
Mayr, Johannes A.;
Fumić, Ksenija;
Vuković, Jurica;
Barić, Ivo

Publication type:

Case Study

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 5, p. 341, doi. 10.1002/jmd2.12442

By:

Portales‐Castillo, Ignacio;
Singal, Rhea;
Ambrose, Anastasia;
Song, Jong Hee;
Son, Minsoo;
Goo, Young Ah.;
Zhou, Wen;
Traum, Avram Z.;
Coler‐Reilly, Ariella;
Humphreys, Benjamin D.;
Civitelli, Roberto;
Jüppner, Harald;
Lundquist, Andrew L.;
Seres, Peter;
Allegretti, Andrew S.;
Mercimek‐Andrews, Saadet

Publication type:

Article

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 5, p. 313, doi. 10.1002/jmd2.12440

By:

Wang, John S.;
Koch, Rebecca L.;
Kenney‐Jung, Daniel;
Huggins, Erin;
Sodhi, Sirajbir S.;
Landstrom, Andrew P.;
Grewal, Dilraj S.;
Kishnani, Priya S.

Publication type:

Article

Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature.

Published in:

2024

By:

Selamioğlu, Arzu;
Balcı, Mehmet Cihan;
Karaca, Meryem;
Khalil, Youssef;
Hirachan, Rohit;
Durmuş Tekçe, Hacer;
Parman, Yeşim Gülşen;
Gedikbaşı, Asuman;
Demirkol, Mübeccel;
Clayton, Peter;
Gökçay, Gülden

Publication type:

Case Study

The phenotypic spectrum of PTCD3 deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 5, p. 297, doi. 10.1002/jmd2.12424

By:

Lace, Baiba;
Faqeih, Eissa;
Kaya, Namik;
Krumina, Zita;
Mayr, Johannes A.;
Micule, Ieva;
Wright, Nathan Thompson;
Achleitner, Melanie T.;
AlQudairy, Hanan;
Pajusalu, Sander;
Stavusis, Janis;
Zayakin, Pawel;
Inashkina, Inna

Publication type:

Article