Works matching IS 01418955 AND DT 2004 AND VI 27 AND IP 5
Results: 22
Erratum.
- Published in:
- 2004
- Publication type:
- Correction Notice
Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 621, doi. 10.1023/B:BOLI.0000042987.43395.c6
- By:
- Publication type:
- Article
A simple and rapid enzymatic assay for the branched-chain α-ketoacid dehydrogenase complex using high-performance liquid chromatography.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 633, doi. 10.1023/B:BOLI.0000042988.31581.ed
- By:
- Publication type:
- Article
Gaucher disease: Variability in phenotype among siblings.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 659, doi. 10.1023/B:BOLI.0000042983.60840.f3
- By:
- Publication type:
- Article
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 671, doi. 10.1023/B:BOLI.0000042986.10291.e9
- By:
- Publication type:
- Article
Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two caseswith an intermediate phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 687, doi. 10.1023/B:BOLI.0000043027.80328.75
- By:
- Publication type:
- Article
Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: A preliminary review.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 549, doi. 10.1023/B:BOLI.0000042985.02049.ff
- By:
- Publication type:
- Article
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 591, doi. 10.1023/B:BOLI.0000042984.42433.d8
- By:
- Publication type:
- Article
Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: Case presentation and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 693, doi. 10.1023/B:BOLI.0000043028.97292.70
- By:
- Publication type:
- Article
The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 705, doi. 10.1023/B:BOLI.0000043025.17721.fc
- By:
- Publication type:
- Article
Improvement of CDG diagnosis by combined examination of several glycoproteins.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 581, doi. 10.1023/B:BOLI.0000042982.82131.a4
- By:
- Publication type:
- Article
Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 567, doi. 10.1023/B:BOLI.0000042981.52186.a9
- By:
- Publication type:
- Article
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 609, doi. 10.1023/B:BOLI.0000042980.45692.bb
- By:
- Publication type:
- Article
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 679, doi. 10.1023/B:BOLI.0000042979.42120.55
- By:
- Publication type:
- Article
Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 707, doi. 10.1023/B:BOLI.0000043024.08450.0c
- By:
- Publication type:
- Article
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 649, doi. 10.1023/B:BOLI.0000042959.44318.7c
- By:
- Publication type:
- Article
Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann–Pick A disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 641, doi. 10.1023/B:BOLI.0000042958.22066.6c
- By:
- Publication type:
- Article
The impact of galactosaemia on quality of life—A pilot study.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 601, doi. 10.1023/B:BOLI.0000042957.98782.e4
- By:
- Publication type:
- Article
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 691, doi. 10.1023/B:BOLI.0000043023.57321.18
- By:
- Publication type:
- Article
Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 700, doi. 10.1023/B:BOLI.0000043017.90837.93
- By:
- Publication type:
- Article
Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 625, doi. 10.1023/B:BOLI.0000042936.20691.ad
- By:
- Publication type:
- Article
Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 685, doi. 10.1023/B:BOLI.0000043014.21530.9f
- By:
- Publication type:
- Article