Literature DB >> 25414581

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.

Clara Dm van Karnebeek1, Sylvia Stockler-Ipsiroglu2.   

Abstract

Entities:  

Year:  2014        PMID： 25414581      PMCID： PMC4235446          DOI： 10.1093/pch/19.9.469

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN： 1205-7088            Impact factor:   2.253


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  18 in total

1.  Naming, defining, and classifying in mental retardation.

Authors:  R Luckasson; A Reeve
Journal:  Ment Retard       Date:  2001-02

Review 2.  Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

Authors:  D J Michelson; M I Shevell; E H Sherr; J B Moeschler; A L Gropman; S Ashwal
Journal:  Neurology       Date:  2011-09-28       Impact factor: 9.910

Review 3.  Comprehensive evaluation of the child with intellectual disability or global developmental delays.

Authors:  John B Moeschler; Michael Shevell
Journal:  Pediatrics       Date:  2014-09       Impact factor: 7.124

4.  Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

Authors:  Miao He; Lisa E Kratz; Joshua J Michel; Abbe N Vallejo; Laura Ferris; Richard I Kelley; Jacqueline J Hoover; Drazen Jukic; K Michael Gibson; Lynne A Wolfe; Dhanya Ramachandran; Michael E Zwick; Jerry Vockley
Journal:  J Clin Invest       Date:  2011-03       Impact factor: 14.808

5.  Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

Authors:  Clara D M van Karnebeek; Hans Hartmann; Sravan Jaggumantri; Levinus A Bok; Barb Cheng; Mary Connolly; Curtis R Coughlin; Anibh M Das; Sidney M Gospe; Cornelis Jakobs; Johanna H van der Lee; Saadet Mercimek-Mahmutoglu; Uta Meyer; Eduard Struys; Graham Sinclair; Johan Van Hove; Jean-Paul Collet; Barbara R Plecko; Sylvia Stockler
Journal:  Mol Genet Metab       Date:  2012-09-10       Impact factor: 4.797

6.  Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Authors:  Siddharth Banka; Henk J Blom; John Walter; Majid Aziz; Jill Urquhart; Christopher M Clouthier; Gillian I Rice; Arjan P M de Brouwer; Emma Hilton; Grace Vassallo; Andrew Will; Desirée E C Smith; Yvo M Smulders; Ron A Wevers; Robert Steinfeld; Simon Heales; Yanick J Crow; Joelle N Pelletier; Simon Jones; William G Newman
Journal:  Am J Hum Genet       Date:  2011-02-11       Impact factor: 11.025

Review 7.  Genetic evaluation of intellectual disabilities.

Authors:  John B Moeschler
Journal:  Semin Pediatr Neurol       Date:  2008-03       Impact factor: 1.636

Review 8.  The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

Authors:  Clara D M van Karnebeek; Michael Shevell; Johannes Zschocke; John B Moeschler; Sylvia Stockler
Journal:  Mol Genet Metab       Date:  2014-01-24       Impact factor: 4.797

Review 9.  Present conceptualization of early childhood neurodevelopmental disabilities.

Authors:  Michael I Shevell
Journal:  J Child Neurol       Date:  2009-09-08       Impact factor: 1.987

10.  Demographic and epidemiological determinants of healthcare costs in Netherlands: cost of illness study.

Authors:  W J Meerding; L Bonneux; J J Polder; M A Koopmanschap; P J van der Maas
Journal:  BMJ       Date:  1998-07-11
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  14 in total

1.  Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend.

Authors:  Sunita Bijarnia-Mahay; Ranjana Mishra
Journal:  Indian J Pediatr       Date:  2021-03-26       Impact factor: 1.967

2.  The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.

Authors:  Kym M Boycott; Philippe M Campeau; Heather E Howley; Paul Pavlidis; Sanja Rogic; Christine Oriel; Jason N Berman; Robert M Hamilton; Geoffrey G Hicks; Howard D Lipshitz; Jean-Yves Masson; Eric A Shoubridge; Anne Junker; Michel R Leroux; Christopher R McMaster; Jaques L Michaud; Stuart E Turvey; David Dyment; A Micheil Innes; Clara D van Karnebeek; Anna Lehman; Ronald D Cohn; Ian M MacDonald; Richard A Rachubinski; Patrick Frosk; Anthony Vandersteen; Richard W Wozniak; Izabella A Pena; Xiao-Yan Wen; Thierry Lacaze-Masmonteil; Catharine Rankin; Philip Hieter
Journal:  Am J Hum Genet       Date:  2020-02-06       Impact factor: 11.025

3.  Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.

Authors:  Hilary Vallance; Graham Sinclair; Bojana Rakic; Sylvia Stockler-Ipsiroglu
Journal:  Paediatr Child Health       Date:  2020-12-19       Impact factor: 2.253

Review 4.  A pediatric perspective on genomics and prevention in the twenty-first century.

Authors:  Bimal P Chaudhari; Kandamurugu Manickam; Kim L McBride
Journal:  Pediatr Res       Date:  2019-10-02       Impact factor: 3.756

5.  Catatonia in Older Adult Individuals with Intellectual Disabilities.

Authors:  Megan White; Edward Maxwell; Warren E Milteer; Jose de Leon
Journal:  Case Rep Psychiatry       Date:  2015-10-01

6.  Utility of metabolic screening in neurological presentations of infancy.

Authors:  Djurdja Djordjevic; Etsuko Tsuchiya; Megan Fitzpatrick; Neal Sondheimer; James J Dowling
Journal:  Ann Clin Transl Neurol       Date:  2020-06-04       Impact factor: 4.511

7.  Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.

Authors:  Yue T K Yuen; Ilaria Guella; Elke Roland; Michael Sargent; Cyrus Boelman
Journal:  BMC Med Genet       Date:  2019-05-31       Impact factor: 2.103

Review 8.  A clinical primer on intellectual disability.

Authors:  Dilip R Patel; Maria Demma Cabral; Arlene Ho; Joav Merrick
Journal:  Transl Pediatr       Date:  2020-02

9.  Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.

Authors:  Y Trakadis; A Accogli; B Qi; D Bloom; R Joober; E Levy; K Tabbane
Journal:  Neurogenetics       Date:  2021-08-07       Impact factor: 2.660

10.  Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.

Authors:  Nora Céspedes; Angela Valencia; Carlos Alberto Echeverry; Maria Isabel Arce-Plata; Cristóbal Colón; Daisy E Castiñeiras; Paula Margarita Hurtado; Jose Angel Cocho; Sócrates Herrera; Myriam Arévalo-Herrera
Journal:  Colomb Med (Cali)       Date:  2017-09-30
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