Search Results - "BARUTEAU, J"

Delivering efficient liver-directed AAV-mediated gene therapy by Baruteau, J, Waddington, S N, Alexander, I E, Gissen, P

“…Adeno-associated virus vectors (AAV) have become the leading technology for liver-directed gene therapy. After the pioneering trials using AAV2 and AAV8…”
Get full text

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism by Baruteau, J, Hargreaves, I, Krywawych, S, Chalasani, A, Land, J M, Davison, J E, Kwok, M K, Christov, G, Karimova, A, Ashworth, M, Anderson, G, Prunty, H, Rahman, S, Grünewald, S

“…Dilated cardiomyopathy is a rare complication in propionic acidaemia (PA). Underlying pathophysiological mechanisms are poorly understood. We present a child…”
Get full text

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin by Bernhardt, I., Van Dorp, L., Dixon, M., McSweeney, M., Gan, C., Baruteau, J., Chakrapani, A.

“…Pyruvate carboxylase is a mitochondrial enzyme essential for the tricarboxylic acid cycle (TCA), gluconeogenesis and fatty‐acid synthesis. Pyruvate carboxylase…”
Get full text

Mourning a chronic disease: diagnostic error experienced by two families by Baruteau, J, Cascales, T

“…We report on two pediatric cases with a diagnosis of hereditary metabolic disease established for several years and secondarily disproved. Retrospective…”
Get full text

New insights into perinatal hemochromatosis by Baruteau, J, Heissat, S, Collardeau-Frachon, S, Debray, D, Broué, P, Guigonis, V

“…Perinatal hemochromatosis (PH) includes neonatal acute liver failure (ALF) with cirrhosis and extrahepatic iron overload sparing the reticuloendothelial…”
Get full text

Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management by Feillet, F, Ogier, H, Cheillan, D, Aquaviva, C, Labarthe, F, Baruteau, J, Chabrol, B, de Lonlay, P, Valayanopoulos, V, Garnotel, R, Dobbelaere, D, Briand, G, Jeannesson, E, Vassault, A, Vianey-Saban, C

“…MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As…”
Get full text

Neonatal Escherichia coli meningitis can be complicated by central permanent diabetes insipidus by Baruteau, J, Cartault, A, Chanot, A, Sevely, A, Casper, C

Get more information

Sjögren-Larsson syndrome: 2 case reports by Galoin-Bertail, C, Ogier de Baulny, H, Wanders, R, Schiff, M, Bellavoine, V, Mlika, A, Benoist, G, Baruteau, J

“…Sjögren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is…”
Get full text

Faire le deuil d’une maladie chronique : vécu de l’erreur diagnostique par deux familles by Baruteau, J., Cascales, T.

“…Nous rapportons deux observations pédiatriques pour lesquelles un diagnostic de maladie héréditaire du métabolisme établi depuis plusieurs années a été…”
Get full text

Prise en charge psychologique des enfants avec une maladie héréditaire du métabolisme by Cascales, T., Baruteau, J.

“…Les maladies héréditaires du métabolisme (MHM) sont des maladies génétiques rares dont l’âge de révélation est fréquemment la petite enfance. Ces pathologies…”
Get full text

Chorioangiomatosis: a rare etiology of nonimmune hydrops fetalis. Obstetric and pediatric implications for patient care by Baruteau, J, Joomye, R, Muller, J-B, Vinceslas, C, Baraton, L, Joubert, M, Paumier, A, Roze, J-C

“…We report a case of chorioangiomatosis with hydrops fetalis as a complication. Hydrops fetalis associated with fetal distress led to preterm birth at 33 GW…”
Get full text

Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease by Baruteau, J., Broomfield, A., Crook, V., Finnegan, N., Harvey, K., Burke, D., Burch, M., Shepherd, G., Vellodi, A.

“…Pompe disease (PD) is a severe life-threatening disease in which enzyme replacement therapy (ERT) with alglucosidase alfa is the only treatment available…”
Get full text

G469 Developmental delay in a young infant with non-classical combined malonic and methyl malonic aciduria (CMAMMA) caused by homozygous missense mutation in ACSF3 gene by Dayasiri, MBKC, Goh, E, Kodagali, S, Baruteau, J, Anand, G

“…IntroductionAcylCoA synthetase family member 3 (ACSF3) activates malonylCoA and methymalonylCoA into their respective thioesters. ACSF3 deficiency causes…”
Get full text

Diagnosis and management of metabolic liver failure in children by Broué, P, Baruteau, J

Get full text

Conduite à tenir devant une insuffisance hépatique d’origine métabolique by Broué, P., Baruteau, J.

Get full text

Trouble alimentaire avec un manque de réciprocité mère–nourrisson : à propos d’un cas by Cascales, T., Baruteau, J., Olives, J.-P.

Get full text

Nouveaux concepts dans l’hémochromatose périnatale by Baruteau, J., Heissat, S., Collardeau-Frachon, S., Debray, D., Broué, P., Guigonis, V.

“…L’hémochromatose périnatale (HP) est une maladie à début anténatal caractérisée par une insuffisance hépatocellulaire aiguë (IHA) néonatale avec cirrhose et…”
Get full text

Le syndrôme de Sjögren-Larsson : à propos de 2 cas by Galoin-Bertail, C., Ogier de Baulny, H., Wanders, R., Schiff, M., Bellavoine, V., Mlika, A., Benoist, G., Baruteau, J.

“…Le syndrome de Sjögren-Larsson (SLS) est une maladie neuro-cutanée autosomique récessive liée à une anomalie du métabolisme des lipides par déficit en…”
Get full text

Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : consensus français pour le dépistage, le diagnostic, et la prise en charge by Feillet, F., Ogier, H., Cheillan, D., Aquaviva, C., Labarthe, F., Baruteau, J., Chabrol, B., de Lonlay, P., Valayanopoulos, V., Garnotel, R., Dobbelaere, D., Briand, G., Jeannesson, E., Vassault, A., Vianey-Saban, C.

“…Le déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) est le plus fréquent des déficits de la bêta-oxydation mitochondriale des acides…”
Get full text

La chorioangiomatose : une cause rare d’anasarque fœtoplacentaire non immune. Implications pratiques obstétrico-pédiatriques by Baruteau, J., Joomye, R., Muller, J.-B., Vinceslas, C., Baraton, L., Joubert, M., Paumier, A., Roze, J.-C.

“…We report a case of chorioangiomatosis with hydrops fetalis as a complication. Hydrops fetalis associated with fetal distress led to preterm birth at 33 GW…”
Get full text