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- 2024
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Mark
Seizure freedom but not epilepsy surgery is associated with fewer neuropsychiatric difficulties in patients with tuberous sclerosis
(
- Contribution to journal › Article
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Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- 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
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Mark
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
(
- Contribution to journal › Scientific review
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Mark
Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers
(
- Contribution to journal › Article
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Mark
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
(
- Contribution to journal › Article
- 2023
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Mark
Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation
(
- Contribution to journal › Article
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Mark
Childhood tuberous sclerosis complex in southern Sweden: A paradigm shift in diagnosis and treatment.
(
- Contribution to journal › Article
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Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- Contribution to journal › Article
- 2022
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Mark
Satisfaction and seizure outcomes of epilepsy surgery in tuberous sclerosis : A Swedish population-based long-term follow-up study
(
- Contribution to journal › Article
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Mark
Paediatric emergency departments should manage young febrile and afebrile infants the same if they have a fever before presenting
(
- Contribution to journal › Article
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Mark
Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency
(
- Contribution to journal › Article
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Mark
Management and Outcome of Febrile Infants ≤60 days, With Emphasis on Infants ≤21 Days Old, in Swedish Pediatric Emergency Departments
(
- Contribution to journal › Article
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Mark
A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
(
- Contribution to journal › Article
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Mark
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population-based study
(
- Contribution to journal › Article
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Mark
Breastfed Infants With Spells, Tremor, or Irritability : Rule Out Vitamin B12 Deficiency
(
- Contribution to journal › Article
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Mark
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
(
- Contribution to journal › Article
- 2021
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Mark
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
(
- Contribution to journal › Article
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Mark
Age- and sex-specific prevalence of serious bacterial infections in febrile infants ≤60 days, in Sweden
(
- Contribution to journal › Article
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Mark
The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants
(
- Contribution to journal › Article