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Article
Phenotypic spectrum of fucosidosis in Tunisia
Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-l-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in ...
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Article
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy
Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: ...
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Article
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene
An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutati...
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Article
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
Over the last 15 years, we have performed a total of 30 haematopoietic stem cell transplants on 27 children suffering from Hurler's syndrome. These children were of median age 11 months at the time of diagnosi...
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Article
Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?
Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will requi...
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Article
Outcome of 21 Children with Hurler Syndrome Transplanted from Related or Unrelated Donors
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Article
Glycogen storage disease type IV presenting as hydrops fetalis
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Article
Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation
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Article
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation
Our patient was not an ideal candidate since she was not clinically completely asymptomatic and presented with abnormal MRI and decreased nerve conduction when the metachromatic leukodystrophy was diagnosed in...
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Article
Second trimester prenatal diagnosis of Sanfilippo syndrome type C
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Article
The place of fetal liver transplantation in the treatment of inborn errors of metabolism
Over the last 16 years, 202 fetal tissue transplants have been performed in our department to treat 29 patients with severe inborn errors of metabolism without immunodeficiency, 26 patients with congenital and...
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Article
Possible diagnosis of type 1b glycogen storage disease using frozen liver biopsies
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Article
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency
The symptoms of a myopathy permanently affecting limb girdle muscles are reported in a 31-year-old woman who has been presenting an exertional muscle pain syndrome with myoglobinuria for 20 years. Investigatio...
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Article
First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III
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Article
Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods
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Chapter
First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III
Glycogen storage disease (GSD) type III (McKusick 23240) is an autosomal recessive disorder due to a deficiency of glycogen debranching enzyme (Illingworth et al., 1956). This enzyme presents a transferase activi...
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Chapter
Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods
Cystic fibrosis (CF; McKusick 21970) is a common and severe autosomal recessive single gene disorder affecting one in 2000–2500 Caucasians. A prenatal test for one in four at-risk pregnancies is based on reduc...
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Article
Prevention of neonatal hypoglycaemia by oral lipid supplementation in low birth weight infants
The effect of oral lipid supplementation (2.9 g/day containing 67% medium chain triglycerides) on the prevention of neonatal hypoglycaemia was evaluated in 28 low birth weight infants (mean±1 SD for gestationa...
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Chapter and Conference Paper
Type 3 Gaucher Disease: Clinical and Biological Heterogeneity
Gaucher disease (GD) is a recessive autosomal disorder caused by a deficiency of lysosomal beta glucocerebrosidase (EC 3.2.1.45). Three clinical phenotypes have been distinguished on the basis of clinical sign...
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Article
30 PREVENTION OF NEONATAL HYPOGLYCEMIA BY MEDIUM CHAIN TRIGLYCERIDES (MCT)
In previous studies we showed that oral administration of lipids with 67% MCT results in a hyperglycemic response. In the present prospective investigation, we studied the prophylactic effect of these lipids o...
