Found: 21
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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, p. 395, doi. 10.1007/s10545-008-0965-z
- By:
- Publication type:
- Article
OTHER LYSOSOMAL STORAGE DISEASES.
- Published in:
- Acta Paediatrica, 2008, p. 119, doi. 10.1111/j.1651-2227.2008.00657_4.x
- By:
- Publication type:
- Article
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16.
- Published in:
- Annals of Human Genetics, 2007, v. 71, n. 6, p. 705, doi. 10.1111/j.1469-1809.2007.00373.x
- By:
- Publication type:
- Article
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.
- Published in:
- Journal of Mass Spectrometry, 2006, v. 41, n. 5, p. 586, doi. 10.1002/jms.1013
- By:
- Publication type:
- Article
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 1, p. 72, doi. 10.1111/j.1399-0004.2005.00547.x
- By:
- Publication type:
- Article
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
- Published in:
- 2005
- By:
- Publication type:
- Report
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.
- Published in:
- 2005
- By:
- Publication type:
- Report
Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9296
- By:
- Publication type:
- Article
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
- Published in:
- Human Mutation, 2004, v. 24, n. 4, p. 352, doi. 10.1002/humu.9279
- By:
- Publication type:
- Article
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions<FN ID="fn1">Communicated by Jean-Louis Mandel</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #655 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/655.pdf</FN>
- Published in:
- Human Mutation, 2003, v. 22, n. 4, p. 340, doi. 10.1002/humu.9184
- By:
- Publication type:
- Article
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 328, doi. 10.1023/A:1016522912849
- By:
- Publication type:
- Article
Diagnosis of Fructose-1,6-Bisphosphatase Deficiency Using Cultured Lymphocyte Fraction: A Secure and Noninvasive Alternative to Liver Biopsy.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 41, doi. 10.1023/A:1015129616599
- By:
- Publication type:
- Article
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 681, doi. 10.1023/A:1012715110596
- By:
- Publication type:
- Article
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 755, doi. 10.1023/A:1005663804214
- By:
- Publication type:
- Article
Genotype–phenotype correlation in dihydropteridine reductase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 333, doi. 10.1023/A:1005662710891
- By:
- Publication type:
- Article
β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 354, doi. 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L
- By:
- Publication type:
- Article
Mother-to-infant transmission of hepatitis C virus.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Unusual presentation of the immotile cilia syndrome in two children.
- Published in:
- 1993
- By:
- Publication type:
- journal article
MELAS: clinical features, biochemistry, and molecular genetics.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Food-additive intolerance and its correlation with atopy in children with recurrent or intermittent urticaria-angioedema.
- Published in:
- Pediatric Allergy & Immunology, 1992, v. 3, n. 1, p. 33, doi. 10.1111/j.1399-3038.1992.tb00024.x
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- Publication type:
- Article