Works matching IS 01418955 AND DT 1997 AND VI 20 AND IP 4
Results: 27
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 615, doi. 10.1023/A:1005387932546
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- Article
Fenugreek odour in maple syrup urine disease.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 614, doi. 10.1023/A:1005335915708
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Symptomatic hyperinsulinism reversed by dietary manipulation in glycogenosis type III.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 612, doi. 10.1023/A:1005383831637
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- Article
Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 611, doi. 10.1023/A:1005331814799
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Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 610, doi. 10.1023/A:1005379730729
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- Article
Glycerol kinase deficiency and adrenal hypoplasia congenita.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 609, doi. 10.1023/A:1005327713890
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- Article
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 607, doi. 10.1023/A:1005375629820
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- Article
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 606, doi. 10.1023/A:1005323512982
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- Article
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 604, doi. 10.1023/A:1005371428912
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- Article
Vitamin B12 deficiency in an adult phenylketonuric patient.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 603, doi. 10.1023/A:1005319412073
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Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 595, doi. 10.1023/A:1005367328003
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Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 587, doi. 10.1023/A:1005315311165
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- Article
Effect of plasma α-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 581, doi. 10.1023/A:1005311227094
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- Article
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 578, doi. 10.1023/A:1005355026186
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- Article
A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 569, doi. 10.1023/A:1005303008439
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- Article
Metabolic control and renal dysfunction in type I glycogen storage disease.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 559, doi. 10.1023/A:1005346824368
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- Article
A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 556, doi. 10.1023/A:1005394706622
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A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 549, doi. 10.1023/A:1005357622551
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Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 539, doi. 10.1023/A:1005305614374
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- Article
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 528, doi. 10.1023/A:1005353530303
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- Article
Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 525, doi. 10.1023/A:1005301513465
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- Article
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 517, doi. 10.1023/A:1005397329395
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Mitochondrial abnormalities of liver in two children with citrullinaemia.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 509, doi. 10.1023/A:1005341228486
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- Article
Adult psychosocial outcome in early-treated phenylketonuria.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 499, doi. 10.1023/A:1005389110739
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Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 486, doi. 10.1023/A:1005337126669
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Abnormal glutathione conjugation in patients with tyrosinaemia type I.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 473, doi. 10.1023/A:1005385009831
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- Article
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 463, doi. 10.1023/A:1005314025760
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- Article