Works matching IS 21928312 AND DT 2024 AND VI 65 AND IP 4

Results: 11

Galactokinase 1 is the source of elevated galactose‐1‐phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 280, doi. 10.1002/jmd2.12438

By:

Mangini, Linley;
Lawrence, Roger;
Lopez, Manuel E.;
Graham, Timothy C.;
Bauer, Christopher R.;
Nguyen, Hang;
Su, Cheng;
Ramphal, John;
Crawford, Brett E.;
Hartl, Tom A.

Publication type:

Article

Two successful pregnancies ‐in patients taking Volanesorsen for familial chylomicronemia syndrome.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 249, doi. 10.1002/jmd2.12435

By:

Wanninayake, Subadra;
Ochoa‐Ferraro, Antonio;
Patel, Karishma;
Ramachandran, Radha;
Wierzbicki, Anthony S.;
Dawson, Charlotte

Publication type:

Article

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.

Published in:

2024

By:

Rehsi, Preeya;
Witek, Karolina;
Emmett, Erin;
Carling, Rachel;
Turner, Charles;
Dalton, Neil;
Hutchin, Tim;
Hadzic, Nedim;
Dhawan, Anil;
Vara, Roshni

Publication type:

Case Study

Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis.

Published in:

2024

By:

Heath, Oliver;
Allender, Brooke;
Smith, Joel;
Savva, Elena;
Spencer, Lucy;
Bannister, Elizabeth G.;
Brown, Natasha J.;
Evans, Maureen S.;
Kiss, Sharmila;
Rozen, Thomas H.;
Yaplito‐Lee, Joy

Publication type:

Case Study

Riboflavin transporter deficiency in young adults unmasked by dietary changes.

Published in:

2024

By:

Jaeger, Bregje;
Langeveld, Mirjam;
Brunkhorst, Robert;
Distelmaier, Felix;
Pop, Ana;
Wolf, Nicole I.;
Bosch, Annet M.

Publication type:

Case Study

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 226, doi. 10.1002/jmd2.12426

By:

Al‐Thihli, Khalid;
Al Hashmi, Nadia;
Al Balushi, Aaisha;
Al‐Habsi, Asila;
Al‐Ajmi, Eiman;
Al‐Jasmi, Fatma;
Al‐Murshedi, Fathiya

Publication type:

Article

Transient response to high‐dose niacin therapy in a patient with NAXE deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 212, doi. 10.1002/jmd2.12425

By:

Al‐Amrani, Fatema;
Al‐Thihli, Khalid;
Al‐Ajmi, Eiman;
Al‐Futaisi, Amna;
Al‐Murshedi, Fathiya

Publication type:

Article

The neuronal ceroid lipofuscinosis type 2 – associated variants: An analysis of alterations in the TPP1 gene and genotype–phenotype correlation in Ukraine.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 272, doi. 10.1002/jmd2.12423

By:

Olkhovych, Nataliia;
Pichkur, Nataliia;
Mytsyk, Nataliia;
Tonin, Rodolfo;
Kormoz, Svitlana;
Hregul, Iryna;
Samonenko, Nataliia;
Shklyarskaya, Tetiana;
Olkhovych, Volodymyr;
Buryak, Olexandr;
Morrone, Amelia;
Gorovenko, Nataliia

Publication type:

Article

Elevated homocysteine is negatively correlated with plasma cystathionine β‐synthase activity in givosiran‐treated patients.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 262, doi. 10.1002/jmd2.12416

By:

Keibler, Mark A.;
Sridharan, Gautham V.;
Sweetser, Marianne T.;
Ticau, Simina

Publication type:

Article

Screening and surveillance of hepatocellular carcinoma by serum des‐gamma‐carboxy prothrombin in patients with glycogen storage disease type Ia.

Published in:

2024

By:

Schreuder, A. B.;
Overduin, R. J.;
Peltenburg, N. C.;
de Boer, L.;
Bodewes, F. A. J. A.;
Derks, T. G. J.

Publication type:

Case Study

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 205, doi. 10.1002/jmd2.12371
Publication type:: Article