Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

G Souillet, Nathalie Guffon, I Maire, +15

Bone Marrow Transplantation

TransplantationMarrow TransplantationBone Marrow FailureStem Cell TransplantationHematology +5

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer, +25

Molecular Genetics and Metabolism

Medical DiagnosticsPompe DiseaseInternational Consensus MeetingEngineeringMedicine +8

Follow-up of nine patients with Hurler syndrome after bone marrow transplantation

Nathalie Guffon, G Souillet, I Maire, +2

The Journal of Pediatrics

TransplantationMarrow TransplantationBone Marrow FailureStem Cell TransplantationHematology +3

Perinatal‐lethal Gaucher disease

Cyril Mignot, A. Gélot, B. Bessières, +14

American Journal of Medical Genetics Part A

Fetal MedicinePathologySubstrate Reduction TherapyPerinatal‐lethal Gaucher DiseaseGaucher Disease Patients +14

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.

Hans‐Joachim Kytzia, U. Hinrichs, I Maire, +2

The EMBO Journal

Hexosaminidase ASubstrate SpecificityGlycobiologyMolecular BiologyParasite Genomics +2

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

Pascal Laforêt, P. Petiot, Marc Nicolino, +10

Neurology

Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: A study of 2,000 urine samples

Monique Piraud, Sylvie Boyer, M. Mathieu, +1

Clinica Chimica Acta

UrologyUrinary Glycosaminoglycan AnalysisPathologyUrine SamplesMedicine

Mucopolysaccharidosis type II – genotype/phenotype aspects

Roseline Froissart, I Moreira da Silva, Nathalie Guffon, +2

Acta Paediatrica

Mutation analysis in 24 French patients with glycogen storage disease type 1a.

Françoise Chevalier‐Porst, Dominique Bozon, A M Bonardot, +4

Journal of Medical Genetics

GeneticsGenetic EpidemiologyPathologySystematic SequencingMolecular Genetics +18

Genetic heterogeneity of the <i>GLDC</i> gene in 28 unrelated patients with glycine encephalopathy

Cécile Faure‐Conter, Marie-Odile Rolland, David Cheillan, +3

Journal of Inherited Metabolic Disease