Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

[1]  John J. Mitchell,et al.  Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada , 2019, Orphanet Journal of Rare Diseases.

[2]  F. Çakıroğlu,et al.  The impact of phenylketonuria on PKU patients' quality of life: Using of the phenylketonuria-quality of life (PKU-QOL) questionnaires. , 2018, Clinical nutrition ESPEN.

[3]  Rani H. Singh,et al.  Caregiver Quality of Life with Tyrosinemia Type 1 , 2018, Journal of Genetic Counseling.

[4]  Michael F. Wangler,et al.  Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases. , 2018, Pediatric clinics of North America.

[5]  M. Gogou,et al.  Cardiac manifestations in children with inborn errors of metabolism , 2017, Indian Pediatrics.

[6]  L. White,et al.  Coeliac disease and the gluten-free diet: a review of the burdens; factors associated with adherence and impact on health-related quality of life, with specific focus on adolescence. , 2016, Journal of human nutrition and dietetics : the official journal of the British Dietetic Association.

[7]  M. Baumgartner,et al.  Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents. , 2016, JIMD reports.

[8]  J. Fletcher.  Metabolic emergencies and the emergency physician , 2016, Journal of paediatrics and child health.

[9]  L. Burrage,et al.  Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management. , 2015, Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition.

[10]  E. Bettiol,et al.  Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries , 2015, Orphanet Journal of Rare Diseases.

[11]  A. El-Hattab.  Inborn errors of metabolism. , 2015, Clinics in perinatology.

[12]  B. Heude,et al.  Should the WHO Growth Charts Be Used in France? , 2015, PloS one.

[13]  Fanny Mochel,et al.  An overview of inborn errors of complex lipid biosynthesis and remodelling , 2015, Journal of Inherited Metabolic Disease.

[14]  M. Contarino,et al.  Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning , 2014, Orphanet Journal of Rare Diseases.

[15]  M. Baumgartner,et al.  Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review , 2014, Orphanet Journal of Rare Diseases.

[16]  O. Dulac,et al.  Occasional seizures, epilepsy, and inborn errors of metabolism , 2014, The Lancet Neurology.

[17]  K. Baumstarck,et al.  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 , 2013, Health and Quality of Life Outcomes.

[18]  Nenad Blau,et al.  Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study , 2013, Pediatrics.

[19]  L. Goldbeck,et al.  Quality of life among parents of children with phenylketonuria (PKU) , 2013, Health and Quality of Life Outcomes.

[20]  Y. Zurynski,et al.  Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support , 2013, Orphanet Journal of Rare Diseases.

[21]  M. Baumgartner,et al.  Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients , 2013, Orphanet Journal of Rare Diseases.

[22]  D. Bandara,et al.  In the 21st Century, what is an acceptable response rate? , 2012, Australian and New Zealand journal of public health.

[23]  C. Barthélémy,et al.  Quality of life of adolescents with autism spectrum disorders: comparison to adolescents with diabetes , 2012, European Child & Adolescent Psychiatry.

[24]  Sylvia Stockler,et al.  Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. , 2012, Molecular genetics and metabolism.

[25]  J. Saudubray,et al.  Endocrine manifestations related to inherited metabolic diseases in adults , 2012, Orphanet Journal of Rare Diseases.

[26]  G. Elder,et al.  Young adult identities and their pathways: a developmental and life course model. , 2011, Developmental psychology.

[27]  H. Maurice‐Stam,et al.  Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life , 2011, Journal of Inherited Metabolic Disease.

[28]  S. Cederbaum,et al.  Alternative pathway or diversion therapy for urea cycle disorders now and in the future. , 2010, Molecular genetics and metabolism.

[29]  U. Steuerwald,et al.  Inborn Errors of Energy Metabolism Associated with Myopathies , 2010, Journal of biomedicine & biotechnology.

[30]  K. Hood,et al.  Health-related quality of life across pediatric chronic conditions. , 2010, The Journal of pediatrics.

[31]  G. Navis,et al.  Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. , 2009, Clinical journal of the American Society of Nephrology : CJASN.

[32]  C. Poulin,et al.  An examination of the validity of the Family Affluence Scale II (FAS II) in a general adolescent population of Canada , 2009 .

[33]  C. Currie,et al.  The Health Behaviour in School-aged Children: WHO Collaborative Cross-National (HBSC) Study: origins, concept, history and development 1982–2008 , 2009, International Journal of Public Health.

[34]  Matthias Richter,et al.  Researching health inequalities in adolescents: the development of the Health Behaviour in School-Aged Children (HBSC) family affluence scale. , 2008, Social science & medicine.

[35]  J. Sarles,et al.  NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients , 2008, Journal of Inherited Metabolic Disease.

[36]  S. Galea,et al.  Participation rates in epidemiologic studies. , 2007, Annals of epidemiology.

[37]  S. Packman,et al.  Psychosocial Issues in Families Affected by Maple Syrup Urine Disease , 2007, Journal of Genetic Counseling.

[38]  P. Auquier,et al.  The KIDSCREEN-27 quality of life measure for children and adolescents: psychometric results from a cross-cultural survey in 13 European countries , 2007, Quality of Life Research.

[39]  C. Tebé,et al.  Methods and representativeness of a European survey in children and adolescents: the KIDSCREEN study , 2007, BMC public health.

[40]  J. Saudubray,et al.  Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit , 2007, European Journal of Pediatrics.

[41]  M. Preece,et al.  The incidence of inherited metabolic disorders in the West Midlands, UK , 2006, Archives of Disease in Childhood.

[42]  F. Sedel,et al.  Clinical approach to treatable inborn metabolic diseases: An introduction , 2006, Journal of Inherited Metabolic Disease.

[43]  G. Arnold,et al.  Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect. , 2005, Molecular genetics and metabolism.

[44]  P. Auquier,et al.  Reliability and validity of the VSP-A, a health-related quality of life instrument for ill and healthy adolescents. , 2005, The Journal of adolescent health : official publication of the Society for Adolescent Medicine.

[45]  L. Morandi,et al.  Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings , 2004, Journal of Inherited Metabolic Disease.

[46]  A. Boneh,et al.  The impact of galactosaemia on quality of life—A pilot study , 2004, Journal of Inherited Metabolic Disease.

[47]  M. Grootenhuis,et al.  Living with classical galactosemia: health-related quality of life consequences. , 2004, Pediatrics.

[48]  L. Muller,et al.  Évaluation multidimensionnelle du coping : validation du Brief COPE sur une population française , 2003 .

[49]  M. Durán,et al.  The eye as a window to inborn errors of metabolism , 2003, Journal of Inherited Metabolic Disease.

[50]  M. Landolt,et al.  Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. , 2002, The Journal of pediatrics.

[51]  P. Clayton.  Inborn errors presenting with liver dysfunction. , 2002, Seminars in neonatology : SN.

[52]  P. Auquier,et al.  Health-related quality of life reported by French adolescents: a predictive approach of health status? , 2001, The Journal of adolescent health : official publication of the Society for Adolescent Medicine.

[53]  C. Eiser,et al.  A review of measures of quality of life for children with chronic illness , 2001, Archives of disease in childhood.

[54]  D. Applegarth,et al.  Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996 , 2000, Pediatrics.

[55]  M. Sprangers,et al.  Integrating response shift into health-related quality of life research: a theoretical model. , 1999, Social science & medicine.

[56]  B K Burton,et al.  Inborn errors of metabolism in infancy-A guide to diagnosis , 1998, Pediatrics.

[57]  Donald Hedeker,et al.  Estimation of Effect Size From a Series of Experiments Involving Paired Comparisons , 1993 .

[58]  Jacob Cohen.  Statistical Power Analysis for the Behavioral Sciences , 1969, The SAGE Encyclopedia of Research Design.

[59]  R Core Team,et al.  R: A language and environment for statistical computing. , 2014 .

[60]  Yu-Ping Zhang,et al.  Impact of inborn errors of metabolism on admission in a neonatal intensive care unit: a 4-year report , 2013, Journal of pediatric endocrinology & metabolism : JPEM.

[61]  J. Saudubray.  Clinical Approach to Inborn Errors of Metabolism in Paediatrics , 2012 .

[62]  P. Auquier,et al.  Validation of a French health-related quality of life instrument for adolescents: The VSP-A , 2004, Quality of Life Research.

[63]  L. Muller,et al.  [Multidimensional assessment of coping: validation of the Brief COPE among French population]. , 2003, L'Encephale.

[64]  C. Carver.  You want to measure coping but your protocol’ too long: Consider the brief cope , 1997, International journal of behavioral medicine.

[65]  T J Cole,et al.  Body Mass Index variations: centiles from birth to 87 years. , 1991, European journal of clinical nutrition.