1.
Neoreviews
; 24(3): e184-e187, 2023 03 01.
Article
in English
| MEDLINE
| ID: mdl-36854850
2.
Neoreviews
; 24(4): e250-e254, 2023 04 01.
Article
in English
| MEDLINE
| ID: mdl-37002392
3.
Neoreviews
; 23(7): e504-e506, 2022 07 01.
Article
in English
| MEDLINE
| ID: mdl-35773514
4.
Neoreviews
; 23(6): e416-e418, 2022 06 01.
Article
in English
| MEDLINE
| ID: mdl-35641457
Subject(s)
Anemia , Thrombocytopenia , Humans , Thrombocytopenia/complications , Thrombocytopenia/diagnosis
5.
Neoreviews
; 23(2): e125-e127, 2022 02 01.
Article
in English
| MEDLINE
| ID: mdl-35102386
Subject(s)
Hypoglycemia , Humans , Hypoglycemia/diagnosis , Hypoglycemia/etiology , Sexual Development
6.
Neoreviews
; 23(1): e56-e59, 2022 01 01.
Article
in English
| MEDLINE
| ID: mdl-34970668
7.
Neoreviews
; 22(10): e693-e695, 2021 10.
Article
in English
| MEDLINE
| ID: mdl-34599067
8.
Indian Pediatr
; 58(7): 688, 2021 Jul 15.
Article
in English
| MEDLINE
| ID: mdl-34315836
9.
Epilepsy Behav Rep
; 16: 100443, 2021.
Article
in English
| MEDLINE
| ID: mdl-33981986
ABSTRACT
Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Genetic report confirmed the diagnosis of PNPO deficiency. A literature review on phenotypic variants in terms of response to pyridoxine is also presented along with a proposed algorithm to manage a case of suspected vitamin responsive epilepsy. This case highlights our limited understanding of why variation in response to treatment exists in children with PNPO deficiency.
10.
Neoreviews
; 22(5): e356-e359, 2021 05.
Article
in English
| MEDLINE
| ID: mdl-33931483