Literature DB >> 10863938

The adult and adolescent clinic for inborn errors of metabolism.

D P Brenton1.   

Abstract

Adolescent and adult clinics for patients with inborn metabolic errors are needed first to provide care to patients who develop distinctive problems as their different disorders impinge on education, career and family life. The selection of patients in this article illustrates the range of the problems. Fundamental research will be a shared interest with paediatricians and others, but outcomes of care and treatment in young adults and in patients in middle life must be a special concern of adult clinics. It is essential to gather that information. The best model is probably an outpatient service for all ages in a single centre with paediatricians and adult physicians contributing and sharing access to dietary and laboratory services. Such a model would be best for generating the meetings, case discussions and initiatives that contribute to a thriving and energetic unit. Clearly identified centres in each country would be an effective means of acquiring the information on the adult follow-up of these uncommon disorders.

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Year:  2000        PMID: 10863938     DOI: 10.1023/a:1005627911682

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


  7 in total

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Authors:  P Lee; I Smith; A Piesowicz; D Brenton
Journal:  Lancet       Date:  1999-02-13       Impact factor: 79.321

2.  DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA).

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Journal:  Arch Dis Child       Date:  1963-10       Impact factor: 3.791

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Journal:  Biochem J       Date:  1948       Impact factor: 3.857

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Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

5.  A portable infusion system for the ambulant child.

Authors:  A J Macnab
Journal:  J Pediatr       Date:  1976-04       Impact factor: 4.406

6.  Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration.

Authors:  M I Kaiser-Kupfer; R C Caruso; D Valle
Journal:  Arch Ophthalmol       Date:  1991-11

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Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

  7 in total
  2 in total

1.  Genetic counseling in a busy pediatric metabolic practice.

Authors:  Jessica N Hartley; Cheryl R Greenberg; Aizeddin A Mhanni
Journal:  J Genet Couns       Date:  2010-09-14       Impact factor: 2.537

2.  Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.

Authors:  J Pérez-López; L Ceberio-Hualde; J S García-Morillo; J M Grau-Junyent; A Hermida Ameijeiras; M López-Rodríguez; J C Milisenda; M Moltó Abad; M Morales-Conejo; J J Nava Mateos
Journal:  Mol Genet Metab Rep       Date:  2017-02-03
  2 in total

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