A far advanced case of gyrate atrophy in a 12-year-old girl

Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.

International ophthalmology·2017

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Molecular genetics and metabolism reports·2016

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

JIMD reports·2015

Incidence of retinopathy of prematurity over the last decade in the Central Netherlands.

Neonatology·2010

A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake.

Journal of the American Dietetic Association·2008

Perioperative hyperinsulinaemic normoglycaemic clamp causes hypolipidaemia after coronary artery surgery.

British journal of anaesthesia·2008

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Integrated pharmaceutical and behavioral strategies for long-term control of RSV transmission: An impulsive SEIRS-type modeling study.

AIMS public health·2026

Psychiatric comorbidities in pediatric epilepsy: a single-center retrospective study highlighting the burden of depressive symptoms.

Frontiers in neurology·2026

Prevalence of liver steatosis and stiffness by transient elastography and serum markers in Japanese early adolescents.

Environmental health and preventive medicine·2026

Associations of Accumulating Physical Activity and Sedentary Time From Childhood to Adolescence With Arterial Stiffness and Structure in Adolescence-An 8-Year Follow-Up Study.

Pediatric exercise science·2026

Restrained and emotional eating in preadolescents with functional somatic symptoms: A population-based cohort study.

Journal of psychosomatic research·2026

Predictive Contribution of Clinical Measures of Ankle Neuromuscular Impairments to Ankle Kinematic Deviations During Gait in Children With Cerebral Palsy.

Journal of foot and ankle research·2026

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A far advanced case of gyrate atrophy in a 12-year-old girl

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Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Incidence of retinopathy of prematurity over the last decade in the Central Netherlands.

A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake.

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