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Maternal and fetal tyrosinemia type I.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 507, doi. 10.1007/s10545-012-9569-8
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- Article
Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI‐CDG).
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 497, doi. 10.1007/s10545-010-9252-x
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Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II‐III deficiency in liver and muscle.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 481, doi. 10.1007/s10545-010-9246-8
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Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 413, doi. 10.1007/s10545-010-9207-2
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Neonatal cholestasis: an uncommon presentation of hyperargininemia.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 503, doi. 10.1007/s10545-010-9263-7
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- Article
Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 477, doi. 10.1007/s10545-010-9243-y
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- Article
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 489, doi. 10.1007/s10545-010-9248-6
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Exacerbation of erythropoietic protoporphyria by hyperthyroidism.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 465, doi. 10.1007/s10545-010-9234-z
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- Article
Multiple sources of metabolic disturbance in ETHE1‐related ethylmalonic encephalopathy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y
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Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 455, doi. 10.1007/s10545-010-9228-x
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Haematopoietic stem cell transplantation does not retard disease progression in the psycho‐cognitive variant of late‐onset metachromatic leukodystrophy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 471, doi. 10.1007/s10545-010-9240-1
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- Article
Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 421, doi. 10.1007/s10545-010-9212-5
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- Article
Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 429, doi. 10.1007/s10545-010-9214-3
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- Article
Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 417, doi. 10.1007/s10545-010-9211-6
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Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 435, doi. 10.1007/s10545-010-9217-0
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- Article
Case report: long‐term outcome post‐heart transplantation in a woman with Fabry's disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 385, doi. 10.1007/s10545-010-9194-3
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- Article
Chronological changes of the amplitude‐integrated EEG in a neonate with molybdenum cofactor deficiency.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 401, doi. 10.1007/s10545-010-9198-z
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- Article
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 395, doi. 10.1007/s10545-010-9197-0
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- Article
Long‐term follow‐up results in enzyme replacement therapy for Pompe disease: a case report.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 389, doi. 10.1007/s10545-010-9195-2
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Treatment of cobalamin C (cblC) deficiency during pregnancy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 409, doi. 10.1007/s10545-010-9202-7
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- Article
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3‐year follow‐up.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 355, doi. 10.1007/s10545-010-9186-3
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A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
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Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 363, doi. 10.1007/s10545-010-9189-0
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Dietary modifications in patients receiving miglustat.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 379, doi. 10.1007/s10545-010-9193-4
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An adult onset case of alpha‐methyl‐acyl‐CoA racemase deficiency.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 349, doi. 10.1007/s10545-010-9183-6
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Expanded newborn screening in Greece: 30 months of experience.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 341, doi. 10.1007/s10545-010-9181-8
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High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 289, doi. 10.1007/s10545-010-9152-0
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Simultaneous LC‐MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 321, doi. 10.1007/s10545-010-9172-9
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- Article
Pulmonary hemorrhage in type 3 Gaucher disease: a case report.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 329, doi. 10.1007/s10545-010-9176-5
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Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 333, doi. 10.1007/s10545-010-9179-2
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A neonatal‐onset succinyl‐CoA:3‐ketoacid CoA transferase (SCOT)‐deficient patient with T435N and c.658‐666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9168-5
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Past, present and future of newborn screening in Chile.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 301, doi. 10.1007/s10545-010-9165-8
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- Article
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 315, doi. 10.1007/s10545-010-9169-4
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Adipocytes participate in storage in α‐galactosidase deficiency (Fabry disease).
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 297, doi. 10.1007/s10545-010-9160-0
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- Article
Whole body composition analysis by the BodPod air‐displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 283, doi. 10.1007/s10545-010-9149-8
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Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 293, doi. 10.1007/s10545-010-9155-x
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- Article
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 257, doi. 10.1007/s10545-010-9140-4
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- Article
Medium‐chain acyl‐CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 263, doi. 10.1007/s10545-010-9143-1
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- Article
Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 269, doi. 10.1007/s10545-010-9145-z
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- Article
Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 275, doi. 10.1007/s10545-010-9148-9
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Use of a long‐chain triglyceride‐restricted/medium‐chain triglyceride‐supplemented diet in a case of malonyl‐CoA decarboxylase deficiency with cardiomyopathy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 253, doi. 10.1007/s10545-010-9137-z
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- Article
Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 249, doi. 10.1007/s10545-010-9136-0
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Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 233, doi. 10.1007/s10545-010-9123-5
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Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 241, doi. 10.1007/s10545-010-9132-4
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- Article
Loss of NPC1 function in a patient with a co‐inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 227, doi. 10.1007/s10545-010-9107-5
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- Article
Glycogen storage disease type III in the Irish population.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 215, doi. 10.1007/s10545-010-9096-4
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- Article
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 191, doi. 10.1007/s10545-010-9077-7
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- Article
Mitochondrial tRNA<sup>Leu(UUR)</sup> mutation m.3302A > G presenting as childhood‐onset severe myopathy: threshold determination through segregation study.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 219, doi. 10.1007/s10545-010-9098-2
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- Article
Fatal cerebral edema associated with serine deficiency in CSF.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 181, doi. 10.1007/s10545-010-9067-9
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- Article
Optic neuropathy in methylmalonic acidemia: the role of neuroprotection.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 199, doi. 10.1007/s10545-010-9084-8
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- Article