M O Rolland
Affiliation: Hospices Civils de Lyon
- First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduriaM O Rolland
Service de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
J Inherit Metab Dis 28:1141-2. 2005..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 diagnosed...
- False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?D Cheillan
Service de Biochimie Pédiatrique, Unité de Dépistage Néonatal Hôpital Debrousse, 29 rue Soeur Bouvier, 69005, Lyon, France
J Inherit Metab Dis 28:813-8. 2005..These conclusions could explain, in part, the large variations seen in the positive screening rate in the French CF neonatal screening and raise the question whether it is relevant to adapt cut-off to ethnic origin of the newborns...
- Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathyC Conter
Centre d Etude des Maladies Métaboliques, Hopital Debrousse, Lyon, France
J Inherit Metab Dis 29:135-42. 2006..No mutation could be found in two patients, suggesting possible defects in the H-protein or gene alterations that could not be identified by our technique. The potential use of genotype determination for prenatal diagnosis is emphasized...
- Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutationsM P Sperandeo
Department of Pediatrics, Federico II University, Naples, Italy
J Inherit Metab Dis 19:351-6. 1996..These observations could explain the conflicting results reported for vascular pathologies in parents of homocystinuric patients and direct the search for genetic mutations in these vascular pathologies...
- A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemiaS Kure
Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
Hum Genet 102:430-4. 1998..The availability of DNA testing facilitates the prenatal diagnosis of NKH and the identification of carriers, which is necessary for genetic counseling in the affected families...
- Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestryD D Hinson
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX, USA
Am J Hum Genet 65:327-35. 1999..Our results should allow more-accurate identification of carriers and indicate a mutation "cluster" within amino acids 240-270 of the mature MKase polypeptide...
- An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduriaL Nimubona
Department of Neonatology, Caen University Hospital, France
Acta Paediatr 91:714-6. 2002..This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo...
- The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiencyM L Cardoso
Instituto de Genetica Medica Jacinto de Magalhaes, Porto, Portugal
Mol Genet Metab 82:334-8. 2004..The relatively high frequency of the "common" HMGCL Portuguese mutation makes useful the development of a rapid and specific molecular confirmation of new cases with HL deficiency in our country...
- [Late diagnosis of a McArdle disease's case (type V glycogenosis)]S Flavier
Service Central de Physiologie Clinique, Unité d exploration métabolique CERAMM, Hopital Lapeyronie, CHU de Montpellier et Inserm, équipe ERI 25 EA 4202 Muscle et pathologies, Montpellier
Ann Biol Clin (Paris) 65:550-4. 2007..These data allowed us to diagnose a type V glycogenosis, or McArdle's disease. The patient appeared heterozygous for the most frequent mutation (p.R50X)...