27 results on '"De Lonlay P"'
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2. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
3. Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease
4. Neurocognitive profiles in MSUD school-age patients
5. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
6. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
7. Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate
8. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
9. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
10. Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
11. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria
12. Acute rhabdomyolysis and inflammation
13. Lung involvement in children with lysinuric protein intolerance
14. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome
15. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
16. Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect
17. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
18. Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12
19. Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
20. Dominantly inherited hyperinsulinaemic hypoglycaemia
21. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
22. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
23. Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation
24. Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis
25. D-2-Hydroxyglutaric aciduria: Further clinical delineation
26. Recognition and management of fatty acid oxidation defects: A series of 107 patients
27. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
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