Sleep disturbances in aspartylglucosaminuria (AGU): A questionnaire study.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 637, doi. 10.1007/s10545-006-0390-0
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 2006 AND VI 29 AND IP 5
Results: 22
1
2
Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 612, doi. 10.1007/s10545-006-0102-9
- By:
- Publication type:
- Article
3
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.
- Published in:
- 2006
- By:
- Publication type:
- Editorial
4
A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 677, doi. 10.1007/s10545-006-0381-1
- By:
- Publication type:
- Article
5
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 620, doi. 10.1007/s10545-006-0407-8
- By:
- Publication type:
- Article
6
Haematological findings in children with inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 607, doi. 10.1007/s10545-006-0379-8
- By:
- Publication type:
- Article
7
Structural and functional changes in peripheral vasculature of Fabry patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 660, doi. 10.1007/s10545-006-0340-x
- By:
- Publication type:
- Article
8
Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
- Published in:
- 2006
- By:
- Publication type:
- Report
9
Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Report
10
LAT1 gene variants—potential factors influencing the clinical course of phenylketonuria.
- Published in:
- 2006
- By:
- Publication type:
- Report
11
Dramatic reduction in self-injury in Lesch–Nyhan disease following S-adenosylmethionine administration.
- Published in:
- 2006
- By:
- Publication type:
- Report
12
Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations.
- Published in:
- 2006
- By:
- Publication type:
- Report
13
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: One novel and several established mutations.
- Published in:
- 2006
- By:
- Publication type:
- Report
14
Portal hypertension in a patient with Hunter disease.
- Published in:
- 2006
- By:
- Publication type:
- Report
15
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
- Published in:
- 2006
- By:
- Publication type:
- Report
16
Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy.
- Published in:
- 2006
- By:
- Publication type:
- Editorial
17
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 631, doi. 10.1007/s10545-006-0355-3
- By:
- Publication type:
- Article
18
Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 667, doi. 10.1007/s10545-006-0374-0
- By:
- Publication type:
- Article
19
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 647, doi. 10.1007/s10545-006-0363-3
- By:
- Publication type:
- Article
20
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 653, doi. 10.1007/s10545-006-0339-3
- By:
- Publication type:
- Article
21
Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance.
- Published in:
- 2006
- By:
- Publication type:
- Report
22
Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 627, doi. 10.1007/s10545-006-0376-y
- By:
- Publication type:
- Article