Published in J Inherit Metab Dis on February 03, 2011
Preventing Speech and Language Disorders in Children With Classic Galactosemia (BBC) | NCT03838016
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Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires. Orphanet J Rare Dis (2015) 0.90
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Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab (2009) 2.78
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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
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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
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Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J Inherit Metab Dis (2009) 1.52
Social consequences in adult life of end-stage renal disease in childhood. J Pediatr (2005) 1.50
Growing into disability benefits? Psychosocial course of life of young adults with a chronic somatic disease or disability. Acta Paediatr (2011) 1.50
Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program. J Pediatr (2012) 1.46
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Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab (2009) 1.35
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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
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol (2010) 1.16
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation. Eur J Pediatr (2006) 1.14
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
Challenges and pitfalls in the management of phenylketonuria. Pediatrics (2010) 1.04
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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
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
Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis. Mol Genet Metab (2009) 0.99
Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis. Pediatr Res (2007) 0.99
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
Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients. 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
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet (2009) 0.97
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Defining chronic diseases and health conditions in childhood (0-18 years of age): national consensus in the Netherlands. Eur J Pediatr (2008) 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
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
Statin use during pregnancy: a systematic review and meta-analysis. Expert Rev Cardiovasc Ther (2012) 0.94
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol Genet Metab (2012) 0.94
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. Eur J Hum Genet (2010) 0.94
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
Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics (2012) 0.92
Untreated classical galactosemia patient with mild phenotype. Mol Genet Metab (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
Positive effects of a psycho-educational group intervention for children with a chronic disease: first results. Patient Educ Couns (2006) 0.92
Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure. Eur Radiol (2008) 0.92
Health-related quality of life, cognitive functioning and behaviour problems in children with Langerhans cell histiocytosis. Pediatr Blood Cancer (2009) 0.91
Follow-up after paediatric intensive care treatment: parental posttraumatic stress. Acta Paediatr (2008) 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
Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages. Mol Genet Metab (2010) 0.90
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis (2013) 0.90
Reporting health-related quality of life scores to physicians during routine follow-up visits of pediatric oncology patients: is it effective? Pediatr Blood Cancer (2011) 0.90