Hypoglycorrhachia: From Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) to Pyridox(am)ine-5′-Phosphate Oxidase (PNPO) Deficiency: A Fifteen-Year Diagnostic Journey Redefined by Genomic Insights

The Indian Journal of Pediatrics 2026 Open access

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Authors: Vykuntaraju K. Gowda, Abby Varghese, Prem Kumar

DOI: 10.1007/s12098-025-05934-8

Cited by: 0

References: 3

Fields of Study & Subjects

Amino Acid Enzymes and Metabolism Metabolism and Genetic Disorders Diet and metabolism studies

References 3