Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 3
Results: 33
Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 723, doi. 10.1007/s10545-011-9282-z
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- Article
The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 755, doi. 10.1007/s10545-011-9309-5
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- Article
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 749, doi. 10.1007/s10545-011-9280-1
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- Article
Diagnosis and management of glutaric aciduria type I - revised recommendations.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 677, doi. 10.1007/s10545-011-9289-5
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- Article
Complex III staining in blue native polyacrylamide gels.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 741, doi. 10.1007/s10545-011-9315-7
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- Article
Disorders of bile acid synthesis.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 593, doi. 10.1007/s10545-010-9259-3
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- Article
Non-invasive measurements of atherosclerosis in adult cystinosis patients.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 811, doi. 10.1007/s10545-011-9281-0
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- Article
Transition of young adults with phenylketonuria from pediatric to adult care.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 701, doi. 10.1007/s10545-011-9284-x
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- Article
Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 789, doi. 10.1007/s10545-011-9307-7
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- Article
On the future of 'omics': lipidomics.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 583, doi. 10.1007/s10545-010-9274-4
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- Article
Renal transplantation in a boy with methylmalonic acidaemia.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 695, doi. 10.1007/s10545-011-9303-y
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- Article
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 827, doi. 10.1007/s10545-011-9286-8
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- Article
High-throughput structural biology of metabolic enzymes and its impact on human diseases.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 575, doi. 10.1007/s10545-011-9296-6
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- Article
Mild hyperphenylalaninemia: to treat or not to treat.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 651, doi. 10.1007/s10545-011-9283-y
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- Article
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 835, doi. 10.1007/s10545-011-9287-7
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- Article
Protein structure reports in JIMD - an important enhancement of journal scope.
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- 2011
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- Publication type:
- Editorial
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 781, doi. 10.1007/s10545-011-9298-4
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- Article
Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 657, doi. 10.1007/s10545-011-9304-x
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- Article
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 819, doi. 10.1007/s10545-011-9300-1
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- Article
Newborn screening: how are we travelling, and where should we be going?
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 569, doi. 10.1007/s10545-011-9326-4
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- Article
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 795, doi. 10.1007/s10545-011-9285-9
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- Article
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 605, doi. 10.1007/s10545-011-9308-6
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- Article
Structural basis of fumarate hydratase deficiency.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 671, doi. 10.1007/s10545-011-9294-8
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- Publication type:
- Article
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 643, doi. 10.1007/s10545-011-9313-9
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- Article
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 763, doi. 10.1007/s10545-011-9317-5
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- Article
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 731, doi. 10.1007/s10545-011-9319-3
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- Article
Dietary dilemmas in the management of glycogen storage disease type I.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 621, doi. 10.1007/s10545-011-9322-8
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- Article
Tackling frontal lobe-related functions in PKU through functional brain imaging: a Stroop task in adult patients.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 711, doi. 10.1007/s10545-011-9318-4
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- Article
Introduction to the Komrower Memorial Lecture 2010.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 559, doi. 10.1007/s10545-011-9327-3
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- Article
Interactive JIMD articles using the iSee concept: turning a new page on structural biology data.
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- 2011
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- Publication type:
- Editorial
The use of continuous glucose monitoring in the practical management of glycogen storage disorders.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 631, doi. 10.1007/s10545-011-9335-3
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- Publication type:
- Article
Annual symposium of the SSIEM 2010.
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- 2011
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- Publication type:
- Editorial
Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
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- 2011
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- Correction Notice