67 results on '"Biotinidase Deficiency"'
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2. Cost-Effectiveness Methods and Newborn Screening Assessment
3. Diagnostic Workup of Patients with Mitochondrial Diseases
4. Immunological Problems
5. Skin and Hair Disorders
6. Neurological Disease
7. Pregnancy and Maternal Care
8. Workup of the Patient with Lactic Acidemia: Mitochondrial Disease
9. Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)
10. Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review
11. Biotin-responsive Disorders
12. Clinical Approach to Inborn Errors of Metabolism in Pediatrics
13. High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil
14. Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings
15. Expanded Newborn Screening for Inherited Metabolic Diseases
16. NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates
17. Emergency Diagnostic Procedures and Emergency Treatment
18. Biotin Disorders
19. Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
20. Disorders of Organic Acid and Amino Acid Metabolism
21. Biotinidase Deficiency
22. Hereditary Hearing Loss
23. Epilepsy in Biotinidase Deficiency After Biotin Treatment
24. Newborn Screening for Metabolic Disorders
25. Inborn Errors of Metabolism
26. Biotin-responsive Disorders
27. Clinical Approach to Inborn Errors of Metabolism in Paediatrics
28. Metabolic Crises
29. Neonatal Seizures
30. Epilepsies Associated with Malformations of Cortical Development and Inborn Errors of Metabolism
31. Genetic Disorders in Qatar
32. Immunological Problems
33. Skin and Hair Disorders
34. Neurological Disease
35. Vitamins in Milk and Dairy Products: B-Group Vitamins
36. Psychiatry of the Cerebellum
37. Biotin-Responsive Disorders
38. Newborn Screening for Inborn Errors of Metabolism
39. Multiple Carboxylase Deficiency
40. Special Procedures
41. Eye and Adnexa Sectioning
42. Management of Inherited Metabolic Diseases in India
43. Disorders of Valine-Isoleucine Metabolism
44. Tandem Mass Spectrometry in Clinical Diagnosis
45. Biotin-Responsive Multiple Carboxylase Deficiency
46. Vitamin Disorders
47. Biotin-Responsive Multiple Carboxylase Deficiency
48. Biotin-Responsive Multiple Carboxylase Deficiency
49. Biotinidase Deficiency
50. Metabolic Disorders
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