Works in Journal of Inherited Metabolic Disease, 2006, Vol 29, Issue 5
Results: 22
Haematological findings in children with inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 607, doi. 10.1007/s10545-006-0379-8
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- Article
Structural and functional changes in peripheral vasculature of Fabry patients.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 660, doi. 10.1007/s10545-006-0340-x
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- Article
Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
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- 2006
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- Publication type:
- Report
Sleep disturbances in aspartylglucosaminuria (AGU): A questionnaire study.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 637, doi. 10.1007/s10545-006-0390-0
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- Article
Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 612, doi. 10.1007/s10545-006-0102-9
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- Article
In response to R.E. Roux et al (2006) The longest surviving patient with classical maple syrup urine disease. J Inherit Metab Dis 29:190–194.
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- 2006
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- Publication type:
- Editorial
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 620, doi. 10.1007/s10545-006-0407-8
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- Article
A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 677, doi. 10.1007/s10545-006-0381-1
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- Article
Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome.
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- 2006
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- Publication type:
- Report
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
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- 2006
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- Publication type:
- Report
Dramatic reduction in self-injury in Lesch–Nyhan disease following S-adenosylmethionine administration.
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- 2006
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- Publication type:
- Report
Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations.
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- 2006
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- Publication type:
- Report
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: One novel and several established mutations.
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- 2006
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- Publication type:
- Report
Portal hypertension in a patient with Hunter disease.
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- 2006
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- Publication type:
- Report
LAT1 gene variants—potential factors influencing the clinical course of phenylketonuria.
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- 2006
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- Publication type:
- Report
Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy.
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- 2006
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- Publication type:
- Editorial
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 631, doi. 10.1007/s10545-006-0355-3
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- Article
Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 667, doi. 10.1007/s10545-006-0374-0
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- Article
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 647, doi. 10.1007/s10545-006-0363-3
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- Article
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 653, doi. 10.1007/s10545-006-0339-3
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- Article
Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance.
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- 2006
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- Publication type:
- Report
Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 627, doi. 10.1007/s10545-006-0376-y
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- Article