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1. A phase 1/2 study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

2. A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type

3. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

4. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

6. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

9. Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

11. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

12. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

13. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

14. A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.

15. Detection of neurological abnormalities in adolescents and adults with phenylketonuria

19. Expanding the phenotype in argininosuccinic aciduria: need for new therapies

21. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology

22. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

30. Whole-genome sequencing of patients with rare diseases in a national health system

31. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

32. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

33. Supplement to: Monocarboxylate transporter type 1 deficiency and ketone utilization

37. Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria

38. Additional file 2 of Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at

39. Additional file 1 of Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at

40. Additional file 1 of Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England

41. Long-term cognitive and psychosocial outcomes in adults with phenylketonuria

42. Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

43. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

44. Clinical Genetics of Prolidase Deficiency: An Updated Review

46. Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B

47. Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studies

48. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

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