Published in Acta Paediatr on April 21, 2009
Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J Inherit Metab Dis (2011) 0.87
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life. J Inherit Metab Dis (2013) 0.86
Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health Qual Life Outcomes (2013) 0.85
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. Orphanet J Rare Dis (2014) 0.82
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders. JIMD Rep (2016) 0.77
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet J Rare Dis (2016) 0.75
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis (2016) 0.75
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A (2008) 2.87
Definitions and measurement of chronic health conditions in childhood: a systematic review. JAMA (2007) 2.86
Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab (2009) 2.78
Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation (2007) 2.15
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA (2006) 2.11
Mortality and causes of death of end-stage renal disease in children: a Dutch cohort study. Kidney Int (2002) 2.04
Young adult patients with a history of pediatric disease: impact on course of life and transition into adulthood. J Adolesc Health (2006) 1.78
Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis (2010) 1.68
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation (2011) 1.65
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics (2002) 1.59
'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases. Arch Dis Child (2010) 1.54
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
Neurocognitive deficits in children with sickle cell disease: a comprehensive profile. Pediatr Blood Cancer (2010) 1.53
Social consequences in adult life of end-stage renal disease in childhood. J Pediatr (2005) 1.50
Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program. J Pediatr (2012) 1.46
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood (2011) 1.45
Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia. J Pediatr (2011) 1.42
International comparison of contributions to psychosocial research on survivors of childhood cancer: past and future considerations. J Pediatr Psychol (2004) 1.41
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Hidden consequences of success in pediatrics: parental health-related quality of life--results from the Care Project. Pediatrics (2008) 1.31
White matter fractional anisotropy correlates with speed of processing and motor speed in young childhood cancer survivors. Int J Radiat Oncol Biol Phys (2008) 1.30
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant (2003) 1.28
Pediatric health-related quality of life questionnaires in clinical trials. Curr Opin Allergy Clin Immunol (2006) 1.27
Living with classical galactosemia: health-related quality of life consequences. Pediatrics (2004) 1.26
Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) (2011) 1.24
Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int (2004) 1.21
Mitochondrial long chain fatty acid beta-oxidation in man and mouse. Biochim Biophys Acta (2009) 1.20
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis (2010) 1.19
Severe bone disease and low bone mineral density after juvenile renal failure. Kidney Int (2003) 1.18
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol (2010) 1.16
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests. BMC Neurol (2010) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Emotional functioning of parents of children with cancer: the first five years of continuous remission after the end of treatment. Psychooncology (2008) 1.12
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2005) 1.11
Treatment of lysosomal storage disorders: successes and challenges. J Inherit Metab Dis (2014) 1.10
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans. J Inherit Metab Dis (2012) 1.09
[Extensive neonatal heel injection screening for metabolic diseases in the Netherlands]. Ned Tijdschr Geneeskd (2009) 1.08
Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand. Eur J Pediatr (2007) 1.07
Health related quality of life of Dutch children: psychometric properties of the PedsQL in the Netherlands. BMC Pediatr (2009) 1.05
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2010) 1.04
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One (2012) 1.04
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. J Inherit Metab Dis (2013) 1.04
Innovations in e-health. Qual Life Res (2013) 1.03
A predictive model of Health Related Quality of life of parents of chronically ill children: the importance of care-dependency of their child and their support system. Health Qual Life Outcomes (2009) 1.03
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics (2003) 1.02
Health-related quality of life in young adults with symptoms of constipation continuing from childhood into adulthood. Health Qual Life Outcomes (2009) 1.02
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res (2005) 1.01
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet (2003) 1.01
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr (2003) 1.00
Gastrointestinal manifestations of cow's milk protein allergy and gastrointestinal motility. Acta Paediatr (2012) 1.00
Neurocognitive deficits in children with sickle cell disease are associated with the severity of anemia. Pediatr Blood Cancer (2010) 1.00
Monitoring health-related quality of life in paediatric practice: development of an innovative web-based application. BMC Pediatr (2011) 1.00
Cardiac disease in young adult patients with end-stage renal disease since childhood: a Dutch cohort study. Kidney Int (2003) 1.00
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab (2012) 0.99
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics (2013) 0.98
Effect of dexamethasone on quality of life in children with acute lymphoblastic leukaemia: a prospective observational study. Health Qual Life Outcomes (2008) 0.98
Longitudinal assessment of health-related quality of life in preschool children with non-CNS cancer after the end of successful treatment. Pediatr Blood Cancer (2008) 0.97
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet J Rare Dis (2011) 0.97
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis (2010) 0.97
Neurocognitive consequences of a paediatric brain tumour and its treatment: a meta-analysis. Dev Med Child Neurol (2012) 0.96
Are parents able to rate the symptoms and quality of life of their offspring with IBD? Inflamm Bowel Dis (2002) 0.96
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. Orphanet J Rare Dis (2013) 0.96
Defining chronic diseases and health conditions in childhood (0-18 years of age): national consensus in the Netherlands. Eur J Pediatr (2008) 0.96
Behavioral therapy for childhood constipation: a randomized, controlled trial. Pediatrics (2008) 0.96
Identification of novel mutations in classical galactosemia. Hum Mutat (2005) 0.95
The effect of thyroxine treatment started in the neonatal period on development and growth of two-year-old Down syndrome children: a randomized clinical trial. J Clin Endocrinol Metab (2005) 0.94
Statin use during pregnancy: a systematic review and meta-analysis. Expert Rev Cardiovasc Ther (2012) 0.94
Comorbidity, hospitalization, and medication use and their influence on mental and motor development of young infants with Down syndrome. Pediatrics (2006) 0.94
Long-term follow-up of renal transplantation in children: a Dutch cohort study. Transplantation (2004) 0.93
Chronic childhood constipation: a review of the literature and the introduction of a protocolized behavioral intervention program. Patient Educ Couns (2007) 0.93
Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age. J Clin Endocrinol Metab (2006) 0.92
Positive effects of a psycho-educational group intervention for children with a chronic disease: first results. Patient Educ Couns (2006) 0.92
Quality of life in children three and nine months after discharge from a paediatric intensive care unit: a prospective cohort study. Health Qual Life Outcomes (2008) 0.92
Autoantibodies and histogenesis of celiac disease. Rom J Gastroenterol (2003) 0.92
Dental enamel defects in children with coeliac disease. Int J Paediatr Dent (2007) 0.92
Follow-up after paediatric intensive care treatment: parental posttraumatic stress. Acta Paediatr (2008) 0.91
Health-related quality of life, cognitive functioning and behaviour problems in children with Langerhans cell histiocytosis. Pediatr Blood Cancer (2009) 0.91
Outcome of paediatric intensive care survivors. Eur J Pediatr (2007) 0.91
Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr (2005) 0.90
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis (2013) 0.90
Course and predictors of posttraumatic stress disorder in parents after pediatric intensive care treatment of their child. J Pediatr Psychol (2010) 0.90
Efficacy of psychosocial group intervention for children with chronic illness and their parents. Pediatrics (2013) 0.89
Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I. Pediatrics (2011) 0.89
Behavioral and emotional problems in children with sickle cell disease and healthy siblings: Multiple informants, multiple measures. Pediatr Blood Cancer (2009) 0.89
Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol (2012) 0.89
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab (2012) 0.88
Health related quality of life in Dutch young adults: psychometric properties of the PedsQL generic core scales young adult version. Health Qual Life Outcomes (2014) 0.87
An explorative study on quality of life and psychological and cognitive function in pediatric survivors of septic shock. Pediatr Crit Care Med (2009) 0.87