Works matching IS 21928312 AND DT 2023 AND VI 64 AND IP 6

Results: 11

A case of hyperlysinemia identified by urine newborn screening.

Published in:

2023

By:

Yeganeh, Mehdi;
Auray‐Blais, Christiane;
Maranda, Bruno;
Sabovic, Amanda;
DeVita, Robert J.;
Lazarus, Michael B.;
Houten, Sander M.

Publication type:

Case Study

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 468, doi. 10.1002/jmd2.12398

By:

Carling, Rachel S.;
Barclay, Zoe;
Cantley, Nathan;
Emmett, Erin C.;
Hogg, Sarah L.;
Finezilber, Yael;
Schulenburg‐Brand, Danja;
Murphy, Elaine;
Moat, Stuart J.

Publication type:

Article

Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin.

Published in:

2023

By:

Mills, Shelby L.;
Roberts, Paige;
Ashfaq, Myla;
Leal, Kathryn;
Northrup, Hope;
Brown, Deborah L.;
Rodriguez‐Buritica, David;
Farach, Laura S.

Publication type:

Case Study

PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 424, doi. 10.1002/jmd2.12396

By:

Starosta, Rodrigo Tzovenos;
Kerashvili, Nino;
Pruitt, Cassandra;
Schultz, Matthew J.;
Boyer, Suzanne W.;
Morava, Eva;
Lasio, Maria Laura Duque;
Grange, Dorothy K.

Publication type:

Article

S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 417, doi. 10.1002/jmd2.12395

By:

Lee, Angela;
Knox, Renatta;
Reynolds, Margaret;
McRoy, Erin;
Nguyen, Hoanh

Publication type:

Article

Comparison of efficacy between subcutaneous and intravenous application of moss‐aGal in the mouse model of Fabry disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 460, doi. 10.1002/jmd2.12393

By:

Dabrowska‐Schlepp, Paulina;
Busch, Andreas;
Shen, Jin‐Song;
Cheong, Rachel Y.;
Madsen, Lone Bruhn;
Mascher, Daniel;
Schiffmann, Raphael;
Schaaf, Andreas

Publication type:

Article

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.

Published in:

2023

By:

Hanafusa, Hiroaki;
Nakamura, Katsuya;
Kamijo, Yuji;
Kitahara, Masashi;
Ehara, Takashi;
Yoshinaga, Tsuneaki;
Aoki, Kaoru;
Katoh, Nagaaki;
Yamaguchi, Tomomi;
Kosho, Tomoki;
Sekijima, Yoshiki

Publication type:

Case Study

Partial N‐acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.

Published in:

2023

By:

Abou Haidar, Lea;
Pachnis, Panayotis;
Gotway, Garrett K.;
Ni, Min;
DeBerardinis, Ralph J.;
McNutt, Markey C.

Publication type:

Case Study

Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 453, doi. 10.1002/jmd2.12383

By:

Abrahamsen, Rannvá K.;
Lund, Allan M.;
Rasmussen, Jan

Publication type:

Article

No evidence for systemic low‐grade inflammation in adult patients with early‐treated phenylketonuria: The INGRAPH study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 446, doi. 10.1002/jmd2.12366

By:

Giret, Chloé;
Dos Santos, Yann;
Blasco, Hélène;
Paget, Christophe;
Gonzalez, Loïc;
Tressel, Nathalie;
Dieu, Maeva;
Bigot, Adrien;
Gissot, Valérie;
Audemard‐Verger, Alexandra;
Maillot, François

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 401, doi. 10.1002/jmd2.12301
Publication type:: Article