Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 5
Results: 17
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 695, doi. 10.1007/s10545-017-0039-1
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- Article
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 745, doi. 10.1007/s10545-017-0036-4
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- Article
Rescuing Canavan disease: engineering the wrong cell at the right time.
- Published in:
- 2017
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- Publication type:
- Letter
Cataract and early nystagmus due to galactokinase deficiency.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 749, doi. 10.1007/s10545-017-0040-8
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- Article
Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 751, doi. 10.1007/s10545-017-0041-7
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- Article
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 685, doi. 10.1007/s10545-017-0042-6
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- Article
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 715, doi. 10.1007/s10545-017-0044-4
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- Article
Risk factors for poor bone health in primary mitochondrial disease.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 673, doi. 10.1007/s10545-017-0046-2
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- Article
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 641, doi. 10.1007/s10545-017-0047-1
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- Article
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 631, doi. 10.1007/s10545-017-0048-0
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- Article
Developmental window of sensorineural deafness in biotinidase-deficient mice.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 733, doi. 10.1007/s10545-017-0049-z
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- Article
Hearing loss in children with Fabry disease.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 725, doi. 10.1007/s10545-017-0051-5
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- Article
Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 703, doi. 10.1007/s10545-017-0054-2
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- Publication type:
- Article
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
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- 2017
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- Publication type:
- Erratum
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 657, doi. 10.1007/s10545-017-0066-y
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- Publication type:
- Article
PMM2-CDG and sensorineural hearing loss.
- Published in:
- 2017
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- Publication type:
- Letter
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 709, doi. 10.1007/s10545-017-0028-4
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- Publication type:
- Article