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Works matching IS 21928312 AND DT 2023 AND VI 64 AND IP 4

Results: 7

1

Plasma calprotectin is extremely high in patients with lysinuric protein intolerance.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 293, doi. 10.1002/jmd2.12377

By:

Kärki, Mari;
Tanner, Laura;
Lahtinen, Satu;
Soukka, Tero;
Niinikoski, Harri

Publication type:

Article

2

CORRIGENDUM.

Published in:: 2023
Publication type:: Correction Notice

3

Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.

Published in:

2023

By:

Whitehouse, Abigail;
Rehsi, Preeya;
Hartley, Louise;
Grunewald, Stephanie;
Yilmaz, Berna Seker;
Pegoretti Baruteau, Kelly;
Yaman, Ayhan;
Thavagnanam, Suren;
Baruteau, Julien

Publication type:

Case Study

4

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 265, doi. 10.1002/jmd2.12374

By:

Sheth, Jayesh;
Nair, Aadhira;
Bhavsar, Riddhi;
Shah, Heli;
Tayade, Naresh;
Prabha, C. Ratna;
Sheth, Frenny;
Sheth, Harsh

Publication type:

Article

5

Increased prevalence of Parkinson's disease in alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 282, doi. 10.1002/jmd2.12367

By:

Ranganath, Lakshminarayan;
Khedr, Milad;
Milan, Anna M.;
Davison, Andrew S.;
Norman, Brendan P.;
Janssen, Mirian C. H.;
Lock, Edward;
Bou‐Gharios, George;
Gallagher, James A.

Publication type:

Article

6

Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.

Published in:

2023

By:

Singh, Prapti;
Amaro, Deirdre;
Obi, Olugbemisola;
Kiran, FNU;
Hediger, Erin;
Toler, Tomi L.;
Dickson, Patricia I.;
Grange, Dorothy K.

Publication type:

Case Study

7

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 259, doi. 10.1002/jmd2.12299
Publication type:: Article