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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
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
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
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
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
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
- 2020
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Mark
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice
(
- Contribution to journal › Article
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Mark
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
(
- Contribution to journal › Article
- 2019
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Mark
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
(
- Contribution to journal › Article
- 2018
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Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
(
- Contribution to journal › Article
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Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- Contribution to journal › Article
- 2016
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Mark
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate
(
- Contribution to journal › Article
- 2015
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Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2009
-
Mark
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus
(
- Contribution to journal › Article
- 2007
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Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
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Mark
COG8 deficiency causes new congenital disorder of glycosylation type IIh
(
- Contribution to journal › Article
- 2006
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Mark
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation
(
- Contribution to journal › Article
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Mark
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality
(
- Contribution to journal › Article
- 2005
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Mark
Essentials of glycosylation
(
- Contribution to journal › Scientific review
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Mark
Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy
(
- Contribution to journal › Article
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Mark
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx
(
- Contribution to journal › Article
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Mark
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology
(
- Contribution to journal › Article
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Mark
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia
(
- Contribution to journal › Article
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Mark
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
(
- Contribution to journal › Article
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Mark
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig
(
- Contribution to journal › Article
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Mark
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts
(
- Contribution to journal › Article