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- 2025
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Mark
The effect of elexacaftor-tezacaftor-ivacaftor on liver stiffness in children with cystic fibrosis
2025) In Journal of Pediatric Gastroenterology and Nutrition(
- Contribution to journal › Article
-
Mark
Gene therapy in advanced metachromatic leukodystrophy : tempering expectations
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Key lessons from the first international treatment eligibility committee : the case of metachromatic leukodystrophy
(
- Contribution to journal › Article
- 2024
-
Mark
Clinical characteristics of children with Borrelia-related peripheral facial palsy and utility of cerebrospinal fluid testing
(
- Contribution to journal › Article
-
Mark
Seizure freedom but not epilepsy surgery is associated with fewer neuropsychiatric difficulties in patients with tuberous sclerosis
(
- Contribution to journal › Article
-
Mark
Cost Effectiveness of Adding Fenfluramine to Standard of Care for Patients with Dravet Syndrome in Sweden
(
- Contribution to journal › Article
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Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
(
- Contribution to journal › Article
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Mark
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy : A Systematic Review
(
- Contribution to journal › Scientific review
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Mark
Ophthalmic manifestations in children with tuberous sclerosis complex
(
- Contribution to journal › Article
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Mark
Overuse of EEG and ECG in children with breath-holding spells and its implication for the management of the spells
(
- Contribution to journal › Article