-
Article
Open AccessLong term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)
Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...
-
Article
Open AccessClinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa
This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18...
-
Article
Open AccessEnzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these ...
-
Article
Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
-
Article
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor 5′-deoxyadenosylcobalamin. The aim of this study was to ...
-
Article
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres
The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal failure and metabolic stroke. The understanding of this dis...
-
Article
NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
We describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) for tyrosinaemia type I. Mo...
-
Article
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria
Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagn...
-
Article
169 Update on Enzyme Replacement Therapy (ERT) with Recombinant Human Arylsulfatase B (RHASB) for MPS VI (Maroteaux-Lamy)
MPS VI is a rare, life-threatening lysosomal storage disease with no effective treatment. ERT with rhASB has shown promising results in 2 clinical studies. The objective of this Phase 3 study was to confirm ef...
-
Article
CDG IIx with unusual phenotype
Summary: Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II...
-
Article
Clinical benefit in Fabry patients given enzyme replacement therapy—A case series
Summary: Fabry disease is a rare lysosomal storage disorder resulting from deficient activity of α-galactosidase A and subsequent pathological accumulation of glycosphingolipids throughout the bo...
-
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...
-
Article
Outcome of 21 Children with Hurler Syndrome Transplanted from Related or Unrelated Donors
-
Article
Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies
-
Article
Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry
-
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...
-
Article
A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate
N-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea-cycle disease. Its clinical presentation is not different from the other hereditary hyperammonaemias. We report a new neonatal ca....
-
Article
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case
Two new familial cases of 2-ketoglutarate dehydrogenase (2-KGD) deficiency are reported: a girl who died at 10 years and a boy, still alive at 4 years, born to consanguineous parents. The cases developed progr...
