Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 6
Results: 25
Erratum to: Abstract 332-P.
- Published in:
- 2010
- By:
- Publication type:
- Correction Notice
Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 775, doi. 10.1007/s10545-010-9203-6
- By:
- Publication type:
- Article
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 697, doi. 10.1007/s10545-010-9164-9
- By:
- Publication type:
- Article
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 727, doi. 10.1007/s10545-010-9201-8
- By:
- Publication type:
- Article
Nutritional issues in treating phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 659, doi. 10.1007/s10545-010-9043-4
- By:
- Publication type:
- Article
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 649, doi. 10.1007/s10545-010-9185-4
- By:
- Publication type:
- Article
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 769, doi. 10.1007/s10545-010-9175-6
- By:
- Publication type:
- Article
Advances and challenges in phenylketonuria.
- Published in:
- 2010
- By:
- Publication type:
- Editorial
Large neutral amino acids in the treatment of PKU: from theory to practice.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 671, doi. 10.1007/s10545-010-9216-1
- By:
- Publication type:
- Article
SSIEM reflections 2004-2010: the growing stature of our society.
- Published in:
- 2010
- By:
- Publication type:
- Editorial
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 715, doi. 10.1007/s10545-010-9192-5
- By:
- Publication type:
- Article
Therapeutic liver repopulation for phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 681, doi. 10.1007/s10545-010-9099-1
- By:
- Publication type:
- Article
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 737, doi. 10.1007/s10545-010-9204-5
- By:
- Publication type:
- Article
S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 705, doi. 10.1007/s10545-010-9171-x
- By:
- Publication type:
- Article
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 759, doi. 10.1007/s10545-010-9199-y
- By:
- Publication type:
- Article
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 803, doi. 10.1007/s10545-010-9200-9
- By:
- Publication type:
- Article
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 795, doi. 10.1007/s10545-010-9196-1
- By:
- Publication type:
- Article
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 747, doi. 10.1007/s10545-010-9206-3
- By:
- Publication type:
- Article
Neurocognitive functioning in school-aged cystinosis patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 787, doi. 10.1007/s10545-010-9182-7
- By:
- Publication type:
- Article
Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.
- Published in:
- 2010
- By:
- Publication type:
- Correction Notice
The reality of dietary compliance in the management of phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 665, doi. 10.1007/s10545-010-9073-y
- By:
- Publication type:
- Article
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 751, doi. 10.1007/s10545-010-9209-0
- By:
- Publication type:
- Article
Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 677, doi. 10.1007/s10545-010-9044-3
- By:
- Publication type:
- Article
BH therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 689, doi. 10.1007/s10545-010-9224-1
- By:
- Publication type:
- Article
Erratum to: Congenital toxoplasmosis-a report on the Danish neonatal screening programme 1999-2007.
- Published in:
- 2010
- By:
- Publication type:
- Correction Notice