De Lonlay, P.

Overview

Works:	53 works in 60 publications in 2 languages and 318 library holdings
Roles:	Other, Contributor, Author, Thesis advisor, Translator, Publishing director, Opponent
Classifications:	RJ390, 618.9239042

Publication Timeline

Most widely held works by P De Lonlay

Prise en charge médicale et diététique des maladies héréditaires du métabolisme by Pascale Lonlay( )

8 editions published between 2010 and 2013 in French and held by 184 WorldCat member libraries worldwide

Le traitement des maladies héréditaires du métabolisme est essentiel à connaître car, rapidement instauré, il peut sauver un enfant ou un adulte. Cet ouvrage se propose donc de décrire la prise en charge médicale et diététique des maladies héréditaires du métabolisme de l'enfant et l'adulte, telle que nos prédécesseurs nous l'ont apprise résumant ainsi nos pratiques. Il s'adresse donc à tout médecin ayant en charge la découverte ou la décompensation de maladies héréditaires du métabolisme, puis le traitement chronique d'un patient en lien avec un centre de référence ou un centre de compétences. Parce que les prises en charge varient d'une équipe à l'autre et sont amenées à évoluer y compris au sein d'une même équipe, ce type d'ouvrage n'existait pas jusqu'à maintenant. Pourtant, malgré la difficulté que représente la rédaction de telles propositions de prises en charge, ce type d'ouvrage s'avère nécessaire pour poser les bases de traitements, qui eux-mêmes seront amenés à être améliorés. Il s'agit donc d'un guide et non de protocoles labellisés, ce livre ne pouvant en aucun cas remplacer la prise en charge adaptée et personnalisée d'un patient donné - qui est fonction de l'évolution clinique biologique de chaque enfant - ni la prise en charge par un centre de référence et de compétences labellisé

Maladies métaboliques héréditaires( Book )

1 edition published in 2011 in French and held by 36 WorldCat member libraries worldwide

Vademecum metabolicum manuel de pédiatrie métabolique by Johannes Zschocke( Book )

1 edition published in 2005 in French and held by 4 WorldCat member libraries worldwide

Maladies métaboliques héréditaires( )

in French and held by 3 WorldCat member libraries worldwide

Autism spectrum disorders in propionic acidemia patients by Caroline Dejean de la Bâtie( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013 by Caroline Unsinn( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders--a successful strategy for clinical research of rare diseases by Additional individual contributors of the UCDC and the E-IMD consortium( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia by Lisa G Riley( )

1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency by Isabelle Valnot( )

1 edition published in 1999 in English and held by 2 WorldCat member libraries worldwide

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood by Wladimir Mauhin( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype by Stefan Kölker( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

Devenir à long terme de 30 patients atteints d'acidémie méthylmalonique résistante à la vitamine B12 by Marie-Anne Cosson( Book )

1 edition published in 2007 in French and held by 2 WorldCat member libraries worldwide

Nous avons étudié le devenir de 30 patients suivis depuis 1984 pour une acidémie méthylmalonique (AMM) résistante à la vitamine B12, ayant survécu après l'âge de 18 mois. Ces patients ont un déficit en methylmalonyl-CoA mutase, partiel (phénotype mut- pour 8) ou total (mut0 pour 14). L'apparition de complications neurologiques et rénales fait la sévérité de la maladie alors que la prise en charge en période néonatale a été améliorée. La moyenne d'âge des patients vivants est de 9,6 ans, 5 sont décédés à l'âge moyen de 8,5 ans avec une atteinte neurologique sévère dans tous les cas et rénale pour 2. Les complications neurologiques peuvent être des séquelles du coma initial ou apparaître de façon aigue ou progressive, comme chez 6 patients. Treize patients présentent un handicap neurologique certain et 10 en sont indemnes. Le seul facteur de bon pronostic neurologique est le phénotype mut- (p=0.017) Une insuffisance rénale est retrouvée chez 14 patients, diagnostiquée en moyenne à 6,8 ans. Deux ont atteint le stade d'insuffisance rénale terminale. Le nombre de décompensations (p=0.43) et le phénotype (p=0.19) ne semblent pas être liés à la survenue de l'insuffisance rénale, bien que les patients mut- débutent leur atteinte plus tardivement. Le phénotype mut- de la maladie apparaît également être de bon pronostic pour les décompensations (p=0,04) et l'excrétion urinaire de l'AMM (p=0,002). Un déficit énergétique a été identifié chez plusieurs patients. Ce déficit probablement responsable des complications à long terme des AMM pourrait avoir deux explications, l'une toxique par accumulation de métabolites en amont du déficit enzymatique, l'autre due un défaut anaplérotique

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Eva Morava( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Congenital hyperinsulinism: current trends in diagnosis and therapy by Jean-Baptiste Arnoux( )

1 edition published in 2011 in English and held by 2 WorldCat member libraries worldwide

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases by Pascale de Lonlay( )

1 edition published in 2001 in English and held by 2 WorldCat member libraries worldwide

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation by Stefan Kölker( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children by Maria-João Ribeiro( )

1 edition published in 2007 in English and held by 2 WorldCat member libraries worldwide

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease by Marie-Thérèse Abi-Wardé( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis by Stéphanie Paquay( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient by Sandrine Vuillaumier-Barrot( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide