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IssueJournal of Inherited Metabolic Disease: Volume 33, Issue 6
641-815December 2010
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SSIEM Column
Open Access
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SSIEM reflections 2004–2010: the growing stature of our society
- Pages: 641-644
- First Published: 15 October 2010
Editorial
Free Access
free
Advances and challenges in phenylketonuria
- Pages: 645-648
- First Published: 18 November 2010
Review
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Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
- Pages: 649-658
- First Published: 08 September 2010
Advances and Challenges in PKU
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The reality of dietary compliance in the management of phenylketonuria
- Pages: 665-670
- First Published: 07 April 2010
Open Access
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Large neutral amino acids in the treatment of PKU: from theory to practice
- Pages: 671-676
- First Published: 26 October 2010
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Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle
- Pages: 677-680
- First Published: 12 February 2010
Original Articles
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BH4 therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up
- Pages: 689-695
- First Published: 13 October 2010
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Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values
- Pages: 697-703
- First Published: 29 July 2010
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S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes
- Pages: 705-713
- First Published: 18 September 2010
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Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance
- Pages: 715-725
- First Published: 30 September 2010
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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
- Pages: 727-735
- First Published: 14 September 2010
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Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response
- Pages: 737-745
- First Published: 16 September 2010
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Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
- Pages: 747-750
- First Published: 24 September 2010
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CRIM-negative infantile Pompe disease: 42-month treatment outcome
- Pages: 751-757
- First Published: 30 September 2010
Open Access
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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
- Pages: 759-767
- First Published: 18 September 2010
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Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
- Pages: 769-774
- First Published: 04 August 2010
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Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis
- Pages: 775-786
- First Published: 24 September 2010
Open Access
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Neurocognitive functioning in school-aged cystinosis patients
- Pages: 787-793
- First Published: 03 September 2010
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Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
- Pages: 795-802
- First Published: 21 September 2010
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Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
- Pages: 803-809
- First Published: 18 September 2010
Erratum
Free Access
free
Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values
- Pages: 811-812
- First Published: 10 September 2010
Free Access
free
Erratum to: Abstract 332-P: A NEW INFANT PKU PROTEIN SUBSTITUTE WITH PREBIOTICS: IMPACT ON GASTRO-INTESTINAL MICROFLORA
- Page: 813
- First Published: 28 October 2010
Free Access
free
Erratum to: Congenital toxoplasmosis—a report on the Danish neonatal screening programme 1999–2007
- Page: 815
- First Published: 26 October 2010
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