Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 964, doi. 10.1007/s10545-007-0710-z
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 2007 AND VI 30 AND IP 6
Results: 29
1
2
Depression in adults with Fabry disease: A common and under-diagnosed problem.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 943, doi. 10.1007/s10545-007-0708-6
- By:
- Publication type:
- Article
3
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 983, doi. 10.1007/s10545-007-0597-8
- By:
- Publication type:
- Article
4
Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 935, doi. 10.1007/s10545-007-0577-z
- By:
- Publication type:
- Article
5
Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 987, doi. 10.1007/s10545-007-0700-1
- By:
- Publication type:
- Article
6
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 979, doi. 10.1007/s10545-007-0699-3
- By:
- Publication type:
- Article
7
Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 855, doi. 10.1007/s10545-007-0745-1
- By:
- Publication type:
- Article
8
Epilepsy and inborn errors of metabolism in adults: A diagnostic approach.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 846, doi. 10.1007/s10545-007-0723-7
- By:
- Publication type:
- Article
9
Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 970, doi. 10.1007/s10545-007-0585-z
- By:
- Publication type:
- Article
10
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 916, doi. 10.1007/s10545-007-0507-0
- By:
- Publication type:
- Article
11
Neurological implications of urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 865, doi. 10.1007/s10545-007-0709-5
- By:
- Publication type:
- Article
12
Nutritional management of patients with urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 880, doi. 10.1007/s10545-007-0718-4
- By:
- Publication type:
- Article
13
Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 990, doi. 10.1007/s10545-007-0693-9
- By:
- Publication type:
- Article
14
Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 989, doi. 10.1007/s10545-007-0737-1
- By:
- Publication type:
- Article
15
No justification for very high-dose enzyme therapy for patients with type III Gaucher disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 843, doi. 10.1007/s10545-007-0783-8
- By:
- Publication type:
- Article
16
Osteoma of the calvaria in l-2-hydroxyglutaric aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 980, doi. 10.1007/s10545-007-0576-0
- By:
- Publication type:
- Article
17
Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 952, doi. 10.1007/s10545-007-0683-y
- By:
- Publication type:
- Article
18
Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 896, doi. 10.1007/s10545-007-0734-4
- By:
- Publication type:
- Article
19
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 981, doi. 10.1007/s10545-007-0692-x
- By:
- Publication type:
- Article
20
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 903, doi. 10.1007/s10545-007-0579-x
- By:
- Publication type:
- Article
21
Deletion of a single mevalonate kinase ( Mvk) allele yields a murine model of hyper-IgD syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 888, doi. 10.1007/s10545-007-0776-7
- By:
- Publication type:
- Article
22
Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 910, doi. 10.1007/s10545-007-0675-y
- By:
- Publication type:
- Article
23
Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels.
- Published in:
- 2007
- By:
- Publication type:
- Report
24
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 984, doi. 10.1007/s10545-007-0686-8
- By:
- Publication type:
- Article
25
Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 986, doi. 10.1007/s10545-007-0557-3
- By:
- Publication type:
- Article
26
High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 978, doi. 10.1007/s10545-007-0701-0
- By:
- Publication type:
- Article
27
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome).
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 924, doi. 10.1007/s10545-007-0641-8
- By:
- Publication type:
- Article
28
Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 982, doi. 10.1007/s10545-007-0676-x
- By:
- Publication type:
- Article
29
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
- Published in:
- 2007
- By:
- Publication type:
- Report