12 results on '"Mills, Philippa B."'
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2. Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine: glyoxylate aminotransferase causing primary hyperoxaluria type I
3. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
4. Phenotypic Variability in a Dystonia Family With Mutations in the Manganese Transporter Gene
5. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: A new treatable disorder
6. Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
7. Pyridoxal 5′-phosphate in cerebrospinal fluid; factors affecting concentration
8. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
9. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
10. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder
11. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
12. The underglycosylation of plasma α1-antitrypsin in congenital disorders of glycosylation type I is not random
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