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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2018, Volume 41, Issue 5, pp. 791 - 797
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female... 
EXPERIENCES | MOTHER | CHILD | ATTITUDES | GONADAL-FUNCTION | FERTILITY | AGE | Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Ethics | Fertility | Cognitive ability | Families & family life | Galactose | Patients | Galactosemia | Original
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 878 - 889
INTRODUCTION: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mitochondrial fatty acid oxidation (FAO) and amino acid... 
Journal Article
Behavior Genetics, ISSN 0001-8244, 09/2017, Volume 47, Issue 5, p. 486
Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic... 
Phenylketonuria | Executive motor control | Longitudinal | Mental health | Adults | Executive functioning
Journal Article
The Anatomical Record, ISSN 1932-8486, 09/2017, Volume 300, Issue 9, pp. 1570 - 1575
Journal Article
Annals of nutrition and metabolism, ISSN 0250-6807, 05/2017, Volume 70, Issue 2, pp. 111 - 121
Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur... 
YOUNG-ADULTS | VITAMIN-D | Phenylketonuria | METAANALYSIS | Phenylalanine | Essential fatty acids | SELENIUM | CHILDREN | SUPPLEMENTATION | Micronutrients | Osteoporosis | DIET | ADOLESCENTS | Bone mineral density | PKU | Osteopenia
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2016, Volume 39, Issue 3, p. 355
OBJECTIVE: Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it... 
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2013, Volume 369, Issue 16, pp. 1529 - 1536
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2014, Volume 371, Issue 20, pp. 1900 - 1907
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2015, Volume 114, Issue 3, p. 425
Objectives: Despite early and continuous treatment many patients with phenylketonuria (PKU) still experience neurocognitive problems. Most problems have been... 
EARLY-TREATED PHENYLKETONURIA | Phenylketonuria | BRIEF-A | ANT | PHENYLALANINE LEVELS | SUSTAINED ATTENTION | Journal Article | CHILDREN | Inborn error of metabolism | EXECUTIVE FUNCTION | INDIVIDUALS | INHIBITION | PROFILE | ADOLESCENTS | Adults | OUTCOMES | Executive functioning
Journal Article
Current Opinion in Clinical Nutrition and Metabolic Care, ISSN 1363-1950, 07/2015, Volume 18, Issue 4, pp. 422 - 427
Journal Article
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