Author Index to Volume 29.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 765, doi. 10.1007/s10545-006-9993-8
- Publication type:
- Article
Works matching IS 01418955 AND DT 2006 AND VI 29 AND IP 6
Results: 15
1
2
Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis.
- Published in:
- 2006
- By:
- Publication type:
- Report
3
Commentary on: The aetiology of neurological complications of organic acidaemias—a role for the blood–brain barrier. Kölker S, Sauer SW, Surtees RAH, Leonard JV.
- Published in:
- 2006
- By:
- Publication type:
- Report
4
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 743, doi. 10.1007/s10545-006-0403-z
- By:
- Publication type:
- Article
5
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 755, doi. 10.1007/s10545-006-0440-7
- By:
- Publication type:
- Article
6
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Report
7
Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 707, doi. 10.1007/s10545-006-0411-z
- By:
- Publication type:
- Article
8
Variant maple syrup urine disease (MSUD)—The entire spectrum.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 716, doi. 10.1007/s10545-006-0276-1
- By:
- Publication type:
- Article
9
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 725, doi. 10.1007/s10545-006-0425-6
- By:
- Publication type:
- Article
10
Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: A case report.
- Published in:
- 2006
- By:
- Publication type:
- Report
11
The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 701, doi. 10.1007/s10545-006-0415-8
- By:
- Publication type:
- Article
12
Mutational spectrum of classical galactosaemia in Spain and Portugal.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 739, doi. 10.1007/s10545-006-0356-2
- By:
- Publication type:
- Article
13
X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype.
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
14
Two familial cases of high blood galactose of unknown aetiology.
- Published in:
- 2006
- By:
- Publication type:
- Report
15
Large neutral amino acids in the treatment of phenylketonuria (PKU).
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 732, doi. 10.1007/s10545-006-0395-8
- By:
- Publication type:
- Article