Found: 7
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Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Report
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 733, doi. 10.1023/A:1005548201355
- By:
- Publication type:
- Article
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 231, doi. 10.1002/humu.9051
- By:
- Publication type:
- Article
Progressive bone impairment with age and pubertal development in neurofibromatosis type I.
- Published in:
- Archives of Osteoporosis, 2018, v. 13, n. 1, p. 1, doi. 10.1007/s11657-018-0507-8
- By:
- Publication type:
- Article
De novo Deletion of 1q31.1-q32.1 in a Patient with Developmental Delay and Behavioral Disorders.
- Published in:
- Cytogenetic & Genome Research, 2012, v. 136, n. 3, p. 167, doi. 10.1159/000336979
- By:
- Publication type:
- Article
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2022, v. 26, n. 14, p. 5136
- By:
- Publication type:
- Article