Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Patient: Male, newborn Final Diagnosis: Glutathione synthetase deficiency Symptoms: Hemolytic anemia • metabolic acidosis Clinical Procedure: — Specialty: Metabolic Disorders and Diabetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: Glutathione synthetase deficiency (GSD) is a r...

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Detalles Bibliográficos
Autores principales: Ekuni, Satoshi, Hirayama, Kei, Nagasaka, Miwako, Osumi, Keita, Kondo, Hidehito, Nakahara, Erina, Yamamoto, Keiko Shimojima, Kanno, Hitoshi, Katayama, Yoshinori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106969/
https://www.ncbi.nlm.nih.gov/pubmed/37050856
http://dx.doi.org/10.12659/AJCR.938396

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