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Neurological Aspects of Human Glycosylation Disorders

Annual review of neuroscience, 2015-07, Vol.38 (1), p.105-125

2015

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Clinical characteristics of children with Borrelia‐related peripheral facial palsy and utility of cerebrospinal fluid testing

Acta Paediatrica, 2024-07, Vol.113 (7), p.1630-1636

2024

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Neurology of inherited glycosylation disorders

Lancet neurology, 2012-05, Vol.11 (5), p.453-466

2012

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Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study

BMC pediatrics, 2024-01, Vol.24 (1), p.81-81, Article 81

2024

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Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers

European journal of neurology, 2024-07, Vol.31 (7), p.e16283-n/a

2024

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Seizure freedom but not epilepsy surgery is associated with fewer neuropsychiatric difficulties in patients with tuberous sclerosis

Epilepsy & behavior, 2024-08, Vol.157, p.109875, Article 109875

2024

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The evolution of epilepsy surgery in tuberous sclerosis in Sweden: A national registry study

Seizure (London, England), 2023-11, Vol.112, p.54-61

2023

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Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation

Molecular genetics and metabolism, 2023-04, Vol.138 (4), p.107562-107562, Article 107562

2023

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Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

The Journal of clinical investigation, 2024-09, Vol.134 (17), p.1-3

2024

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Satisfaction and seizure outcomes of epilepsy surgery in tuberous sclerosis: A Swedish population-based long-term follow-up study

Seizure (London, England), 2022-12, Vol.103, p.39-45

2022

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Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment

BMC pediatrics, 2023-06, Vol.23 (1), p.329-329, Article 329

2023

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1333-1348

2020

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Management and Outcome of Febrile Infants ≤60 days, With Emphasis on Infants ≤21 Days Old, in Swedish Pediatric Emergency Departments

The Pediatric infectious disease journal, 2022-07, Vol.41 (7), p.537-543

2022

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Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.46-46, Article 46

2024

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Age‐ and sex‐specific prevalence of serious bacterial infections in febrile infants ≤60 days, in Sweden

Acta Paediatrica, 2021-11, Vol.110 (11), p.3069-3076

2021

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Overuse of EEG and ECG in children with breath‐holding spells and its implication for the management of the spells

Acta Paediatrica, 2024-02, Vol.113 (2), p.317-326

2024

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Paediatric emergency departments should manage young febrile and afebrile infants the same if they have a fever before presenting

Acta Paediatrica, 2022-10, Vol.111 (10), p.2004-2009

2022

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Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study

Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.248-263

2022

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain (London, England : 1878), 2022-03, Vol.145 (1), p.208-223

2022

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ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

Molecular genetics and metabolism, 2024-06, Vol.142 (2), p.108472, Article 108472

2024

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Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency

Acta Paediatrica, 2022-12, Vol.111 (12), p.2315-2321

2022

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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.898-908

2019

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Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

Orphanet journal of rare diseases, 2018-01, Vol.13 (1), p.4-4, Article 4

2018

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Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency

Pediatric neurology, 2022-06, Vol.131, p.4-12

2022

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Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers

Heliyon, 2024-03, Vol.10 (5), p.e26745-e26745, Article e26745

2024

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Neurological Aspects of Human Glycosylation Disorders

Clinical characteristics of children with Borrelia‐related peripheral facial palsy and utility of cerebrospinal fluid testing

Neurology of inherited glycosylation disorders

Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study

Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers

Seizure freedom but not epilepsy surgery is associated with fewer neuropsychiatric difficulties in patients with tuberous sclerosis

The evolution of epilepsy surgery in tuberous sclerosis in Sweden: A national registry study

Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Satisfaction and seizure outcomes of epilepsy surgery in tuberous sclerosis: A Swedish population-based long-term follow-up study

Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Management and Outcome of Febrile Infants ≤60 days, With Emphasis on Infants ≤21 Days Old, in Swedish Pediatric Emergency Departments

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

Age‐ and sex‐specific prevalence of serious bacterial infections in febrile infants ≤60 days, in Sweden

Overuse of EEG and ECG in children with breath‐holding spells and its implication for the management of the spells

Paediatric emergency departments should manage young febrile and afebrile infants the same if they have a fever before presenting

Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency

Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers

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