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Your search keyword '"De Lonlay P"' showing total 27 results

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27 results on '"De Lonlay P"'

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1. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

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

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

15. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

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

27. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

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