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Literature DB >> 2509813

A clinical biochemist's view of the investigation of suspected inherited metabolic disease.

W Blom¹, J G Huijmans, G B van den Berg.

Abstract

The necessity for a multi-disciplinary approach to the study of genetic disease is discussed. The progress of laboratory investigation programmes made it not feasible and inefficient to run a full metabolic investigation programme in every new patient suspected of inherited metabolic disease. An application form for metabolic investigation is described, which can be used to collect clinical information relevant to metabolic disease. On the basis of the patient's clinical information, selection criteria are given to decide which laboratory investigation programme has to be performed in the individual patient. A full metabolic laboratory investigation programme is described and illustrated with some examples of abnormal metabolite patterns. Diagnostic results over a 2-year period are presented.

Entities: Disease Species

Mesh：

Year: 1989 PMID： 2509813 DOI： 10.1007/978-94-009-1069-0_7

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

12 in total

1. Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.

Authors: R Humbel; M Collart
Journal: Clin Chim Acta Date: 1975-04-16 Impact factor: 3.786

2. Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: review of four years experience.

Authors: C Jakobs
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

3. Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder.

Authors: W Blom; G B van den Berg; J G Huijmans; J A Sanders-Woudstra
Journal: J Inherit Metab Dis Date: 1985 Impact factor: 4.982

4. Neurologic action of megadoses of vitamins.

Authors: W Blom; G B van den Berg; J G Huijmans; H Przyrembel; J Fernandes; H R Scholte; J A Sanders-Woudstra
Journal: Bibl Nutr Dieta Date: 1986

5. Morquio B syndrome: a primary defect in beta-galactosidase.

Authors: G T van der Horst; W J Kleijer; A T Hoogeveen; J G Huijmans; W Blom; O P van Diggelen
Journal: Am J Med Genet Date: 1983-10

6. Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies.

Authors: W J Kleijer; W Blom; J G Huijmans; M C Mooyman; R Berger; M F Niermeijer
Journal: Prenat Diagn Date: 1984 Mar-Apr Impact factor: 3.050

7. Prenatal diagnosis of Sanfilippo disease type B.

Authors: W J Kleijer; J G Huijmans; W Blom; D Gorska; J Kubalska; M Walasek; J Zaremba
Journal: Hum Genet Date: 1984 Impact factor: 4.132

8. Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

Authors: C R Roe; D S Millington; D A Maltby; T P Bohan; S G Kahler; R A Chalmers
Journal: Pediatr Res Date: 1985-05 Impact factor: 3.756

9. Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease.

Authors: D S Millington; C R Roe; D A Maltby
Journal: Biomed Mass Spectrom Date: 1984-05