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European Journal of Medical Genetics, ISSN 1769-7212, 2019, p. 103606
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and... 
Osteogenesis imperfecta | Craniofacial | Fractures | Oligodontia | Dental | IFITM5
Journal Article
Pediatric Clinics of North America, ISSN 0031-3955, 04/2018, Volume 65, Issue 2, pp. xix - xx
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 1977 - 1986
Purpose: Untargeted metabolomic analysis is increasingly being used in the screening and management of individuals with inborn errors of metabolism (IEM). We... 
arginase deficiency | branched-chain amino acids | metabolomics | urea cycle disorder | guanidino compounds | CEREBROSPINAL-FLUID | CEREBRAL-CORTEX | DEFICIENCY | INBORN-ERRORS | THERAPY | PLASMA | URINE | GENETICS & HEREDITY | ARGININE | MUTATIONS | Index Medicus | Metabolomics
Journal Article
Pediatric Clinics of North America, ISSN 0031-3955, 04/2018, Volume 65, Issue 2, pp. 389 - 405
Newborn screening programs aim to achieve presymptomatic diagnosis of treatable disorders allowing for early initiation of medical care to prevent or reduce... 
Tandem mass spectroscopy | Newborn screening | Inborn errors of metabolism | PHENYLKETONURIA | DRIED-BLOOD SPOTS | DISORDERS | TANDEM MASS-SPECTROMETRY | DEFICIENCY | INBORN-ERRORS | METABOLISM | DNA | DISEASE | PEDIATRICS | OUTCOMES | Metabolism, Inborn Errors - diagnosis | Neonatal Screening - methods | Humans | Infant, Newborn
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2017, Volume 19, Issue 3, pp. 362 - 363
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2016, Volume 8, Issue C, pp. 61 - 66
Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and... 
Metabolomic profiling | Intellectual disability | Succinyladenosine | ADSL deficiency | URINE | GENETICS & HEREDITY | PATIENT | MOLECULAR FINDINGS | MUTATIONS | TANDEM MASS-SPECTROMETRY | IDENTIFICATION
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 199 - 215
Journal Article
Journal of human genetics, ISSN 1434-5161, 7/2016, Volume 61, Issue 7, pp. 669 - 672
Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative... 
Glutathione Synthetase Deficiency | 5-oxoprolinuria | Glutathione
Journal Article
Clinics in Perinatology, ISSN 0095-5108, 06/2015, Volume 42, Issue 2, pp. xxi - xxii
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, p. 553
  Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent... 
Genotype & phenotype | Genetic disorders | Mutation | Medical diagnosis
Journal Article
Clinics in perinatology, ISSN 0095-5108, 06/2015, Volume 42, Issue 2, pp. xxi - xxii
Journal Article