Literature DB >> 16763887

Komrower lecture: Treatment of inborn errors of metabolism: a review.

J V Leonard1.   

Abstract

Although the treatment of a small number of inborn errors is very good, for the majority the outcome is less satisfactory. This review examines current treatment critically and suggests how the information on which decisions about the management of patients with inborn errors might be improved.

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Mesh：

Year:  2006        PMID： 16763887     DOI： 10.1007/s10545-006-0273-4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  19 in total

1.  Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

Authors:  C M Eng; N Guffon; W R Wilcox; D P Germain; P Lee; S Waldek; L Caplan; G E Linthorst; R J Desnick
Journal:  N Engl J Med       Date:  2001-07-05       Impact factor: 91.245

2.  Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

Authors:  E Christensen; A Ribes; C Busquets; M Pineda; M Duran; B T Poll-The; C R Greenberg; H Leffers; M Schwartz
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

3.  Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

Authors:  Stephen D Cederbaum; Samantha Koo-McCoy; Ingrid Tein; Betty Y L Hsu; Arupa Ganguly; Eric Vilain; Katrina Dipple; Ljerka Cvitanovic-Sojat; Charles Stanley
Journal:  Mol Genet Metab       Date:  2002-11       Impact factor: 4.797

4.  Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.

Authors:  C R Greenberg; A N Prasad; L A Dilling; J R G Thompson; J C Haworth; B Martin; P Wood-Steiman; L E Seargeant; B Seifert; F A Booth; C Prasad
Journal:  Mol Genet Metab       Date:  2002-01       Impact factor: 4.797

5.  Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

Authors:  Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto B Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann
Journal:  Pediatr Res       Date:  2006-04-26       Impact factor: 3.756

6.  Intellectual and personality development in children with galactosemia.

Authors:  K Fishler; G N Donnell; W R Bergren; R Koch
Journal:  Pediatrics       Date:  1972-09       Impact factor: 7.124

7.  Liver transplantation in urea cycle disorders.

Authors:  J M Saudubray; G Touati; P Delonlay; P Jouvet; C Narcy; J Laurent; D Rabier; P Kamoun; D Jan; Y Revillon
Journal:  Eur J Pediatr       Date:  1999-12       Impact factor: 3.183

8.  Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

Authors:  S Lindstedt; E Holme; E A Lock; O Hjalmarson; B Strandvik
Journal:  Lancet       Date:  1992-10-03       Impact factor: 79.321

9.  Failure of strychnine treatment during the neonatal period in three Finnish children with nonketotic hyperglycinemia.

Authors:  L von Wendt; S Similä; A L Saukkonen; M Koivisto
Journal:  Pediatrics       Date:  1980-06       Impact factor: 7.124

10.  Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

Authors:  Anne-Marie Lamhonwah; Simon E Olpin; Rodney J Pollitt; Christine Vianey-Saban; Priscille Divry; Nathalie Guffon; Guy T N Besley; Russell Onizuka; Linda J De Meirleir; Ljerka Cvitanovic-Sojat; Ivo Baric; Carlo Dionisi-Vici; Ksenija Fumic; Miljenka Maradin; Ingrid Tein
Journal:  Am J Med Genet       Date:  2002-08-15
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  6 in total

1.  Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.

Authors:  Beth K Potter; Julian Little; Pranesh Chakraborty; Jonathan B Kronick; Jessica Evans; Julia Frei; Sarah C Sutherland; Kumanan Wilson; Brenda J Wilson
Journal:  J Inherit Metab Dis       Date:  2011-06-01       Impact factor: 4.982

2.  Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.

Authors:  Monica F Lamoureux; Kylie Tingley; Jonathan B Kronick; Beth K Potter; Alicia K J Chan; Doug Coyle; Linda Dodds; Sarah Dyack; Annette Feigenbaum; Michael Geraghty; Jane Gillis; Cheryl Rockman-Greenberg; Aneal Khan; Julian Little; Jennifer MacKenzie; Bruno Maranda; Aizeddin Mhanni; John J Mitchell; Grant Mitchell; Anne-Marie Laberge; Murray Potter; Chitra Prasad; Komudi Siriwardena; Kathy N Speechley; Sylvia Stockler; Yannis Trakadis; Lesley Turner; Clara Van Karnebeek; Kumanan Wilson; Pranesh Chakraborty
Journal:  JIMD Rep       Date:  2015-02-26

3.  Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.

Authors:  Suprovath Kumar Sarker; Md Tarikul Islam; Aparna Biswas; Golam Sarower Bhuyan; Rosy Sultana; Nusrat Sultana; Shagoofa Rakhshanda; Mst Noorjahan Begum; Asifuzzaman Rahat; Sharmina Yeasmin; Mowshori Khanam; Asim Kumar Saha; Farjana Akther Noor; Abu A Sajib; Abul B M M K Islam; Syeda Kashfi Qadri; Mohammod Shahidullah; Mohammad Abdul Mannan; A K M Muraduzzaman; Tahmina Shirin; Sheikh Maksudur Rahman; Syed Saleheen Qadri; Narayan Saha; Sharif Akhteruzzaman; Firdausi Qadri; Kaiissar Mannoor
Journal:  Biomed Res Int       Date:  2019-01-06       Impact factor: 3.411

4.  Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center.

Authors:  Moacir Wajner; Angela Sitta; Aline Kayser; Marion Deon; Ana C Groehs; Daniella M Coelho; Carmen R Vargas
Journal:  Genet Mol Biol       Date:  2019-04-11       Impact factor: 1.771

Review 5.  Developments in evidence creation for treatments of inborn errors of metabolism.

Authors:  Sylvia Stockler-Ipsiroglu; Beth K Potter; Nataliya Yuskiv; Kylie Tingley; Marc Patterson; Clara van Karnebeek
Journal:  J Inherit Metab Dis       Date:  2020-10-04       Impact factor: 4.982

Review 6.  Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.

Authors:  Beth K Potter; Pranesh Chakraborty; Jonathan B Kronick; Kumanan Wilson; Doug Coyle; Annette Feigenbaum; Michael T Geraghty; Maria D Karaceper; Julian Little; Aizeddin Mhanni; John J Mitchell; Komudi Siriwardena; Brenda J Wilson; Ania Syrowatka
Journal:  Genet Med       Date:  2012-12-06       Impact factor: 8.822
  6 in total

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