Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 8
Results: 15
Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 858, doi. 10.1023/A:1013944308881
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Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 873, doi. 10.1023/A:1013900526628
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Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 833, doi. 10.1023/A:1013988123902
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Familial hypomagnesaemia with secondary hypocalcaemia: A new case that indicates autosomal recessive inheritance.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 875, doi. 10.1023/A:1013952510698
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Continuous glucose monitoring in children with glycogen storage disease type I.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 863, doi. 10.1023/A:1013996325720
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Liver transplantation in a case of argininaemia.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 885, doi. 10.1023/A:1013960712516
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Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 883, doi. 10.1023/A:1013908728445
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Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 881, doi. 10.1023/A:1013956611607
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Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 877, doi. 10.1023/A:1013904627537
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Decreasing serum VLCFA levels in ageing X-ALD female carriers.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 851, doi. 10.1023/A:1013992224811
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Prolidase deficiency diagnosed by <sup>1</sup>H NMR spectroscopy of urine.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 843, doi. 10.1023/A:1013940207973
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Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: Response to riboflavin.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 870, doi. 10.1023/A:1013948409790
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- Article
Outcome of tyrosinaemia type III.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 824, doi. 10.1023/A:1013936107064
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- Article
Modelling the phenylalanine blood level response during treatment of phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 805, doi. 10.1023/A:1013946006155
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- Article
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 815, doi. 10.1023/A:1013984022994
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- Article