P. De Lonlay: search on Z-Library

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1

Hypoglycémie de l'enfant

de Lonlay, P., Arnoux, J.-B., Polak, M., Valayannopoulos, V.

Journal:

EMC - Pédiatrie - Maladies infectieuses

Year:

2010

Language:

french

File:

PDF, 370 KB

french, 2010

2

Urgences métaboliques néonatales

de Lonlay, P., Dubois, S., Valayannopoulos, V., Romano, S., Hubert, P., Depondt, E., Touati, G., Rabier, D.

Journal:

EMC - Pédiatrie - Maladies infectieuses

Year:

2006

Language:

french

File:

PDF, 226 KB

french, 2006

3

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Classification des maladies héréditaires du métabolisme

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 316 KB

french, 2013

4

Anomalies héréditaires du métabolisme des glucides

de Lonlay, P., Dubois, S.

Journal:

EMC - Endocrinologie - Nutrition

Year:

2011

Language:

french

File:

PDF, 286 KB

french, 2011

5

Two new cases of serine deficiency disorders treated with l-serine

Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, Elsa, Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 1.87 MB

english, 2015

6

Aminoacidopatías

P. de Lonlay, V. Valayannopoulos, M.-P. Lorrain, S. Dubois

Journal:

EMC - Pediatría

Year:

2008

File:

PDF, 140 KB

2008

7

Facial anomalies inD-2-hydroxyglutaric aciduria

Amiel, Jeanne, de Lonlay, Pascale, Francannet, Christine, Picard, Alain, Bruel, Henri, Rabier, Daniel, Le Merrer, Martine, Verhoeven, Nanda, Jakobs, Cornelis, Lyonnet, Stanislas, Munnich, Arnold

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 328 KB

english, 1999

8

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Interprétation du bilan biologique

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 362 KB

french, 2013

9

Resveratrol improves mitochondrial functions in respiratory chain-deficient cells

Costa, Alexandra Lopes, Le Bachelier, Carole, Rötig, Agnès, Boneh, Avihu, De Lonlay, Pascale, Tarnopolsky, Mark A., Thorburn, David, Bastin, Jean, Djouadi, Fatima

Journal:

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

10

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.42 MB

english, 2014

11

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Anomalies du métabolisme des purines et pyrimidines

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 356 KB

french, 2013

12

Phenotypic variability and identification of novelYARS2mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

13

Facial appearance in persistent hyperinsulinemic hypoglycemia

Pascale de Lonlay, Valérie Cormier-Daire, Jeanne Amiel, Guy Touati, Alice Goldenberg, Jean-Christophe Fournet, Francis Brunelle, Claire Nihoul-Fékété, Jacques Rahier, Claudine Junien, Jean-Jacques Rob

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

14

Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: Therapeutic consequences

I Flechtner, P De Lonlay, M Polak

Journal:

Diabetes & Metabolism

Year:

2006

File:

PDF, 256 KB

2006

15

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens,

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 837 KB

english, 2016

16

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing

Bouchemal, Nadia, Ouss, Lisa, Brassier, Anaïs, Barbier, Valérie, Gobin, Stéphanie, Hubert, Laurence, de Lonlay, Pascale, Le Moyec, Laurence

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 469 KB

english, 2019

17

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Homocystinurie, métabolisme des folates et de la B12

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 413 KB

french, 2013

18

Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

Sarah E. Flanagan, Séverine Clauin, Christine Bellanné-Chantelot, Pascale de Lonlay, Lorna W. Harries, Anna L. Gloyn, Sian Ellard

Journal:

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

19

CO-48 – Prise en charge néonatale des maladies d'intoxication dérivées du métabolisme protéique

Abily Donval, L., Joffre, C., Lesage, F., Oualha, M., de Saint Blanquat, L., Renolleau, S., Valayannopoulos, V., de Lonlay, P., Dupic, L.

Journal:

Archives de Pédiatrie

Year:

2015

Language:

french

File:

PDF, 58 KB

french, 2015

20

Évaluation de la puberté et de la fertilité des patients atteints de galactosémie

Flechtner, I., Viaud, M., Bidet, M., Coeugniet, F., Mollet-Boudjemline, A., Labrune, P., de Lonlay, P., Thibaud, E., Polak, M.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 128 KB

french, 2013

21

Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation

Valayannopoulos, V., de Blic, J., Mahlaoui, N., Stos, B., Jaubert, F., Bonnet, D., Fischer, A., de Lonlay, P.

Journal:

Year:

2010

Language:

english

File:

PDF, 3.21 MB

english, 2010

22

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, N

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.06 MB

english, 2013

23

Aminoacidopathies

de Lonlay, P., Valayannopoulos, V., Lorrain, M.-P., Dubois, S.

Journal:

EMC - Pédiatrie - Maladies infectieuses

Year:

2008

Language:

french

File:

PDF, 136 KB

french, 2008

24

Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood

Emmanuelle Sarzi, Alice Bourdon, Dominique Chrétien, Mohamed Zarhrate, Johanna Corcos, Abdelhamid Slama, Valérie Cormier-Daire, Pascale de Lonlay, Arnold Munnich, Agnès Rötig

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 214 KB

english, 2007

25

METABOLIC MYOPATHIES I

Gitiaux, C., Gobin-Limballe, S., Desguerre, I., Barnerias, C., De Lonlay, P., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 66 KB

2018

26

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Rötig, Agnès, de Lonlay, Pascale, Chretien, Dominique, Foury, Françoise, Koenig, Michel, Sidi, Daniel, Munnich, Arnold, Rustin, Pierre

Journal:

Nature Genetics

Year:

1997

File:

PDF, 345 KB

1997

27

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, Tareq Hindi, Pascale de Lonlay, Gilli Erez, Laurence Hubert, Ann Saada, Yves de Keyzer, Gideon Eshel, Frédéric M. Vaz, Ophry Pines, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 47 KB

english, 2009

28

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: A study of 31 patients

Angels Garcia-Cazorla, Pascale De Lonlay, Pierre Rustin, Dominique Chretien, Guy Touati, Daniel Rabier, Abdel Slama, Jean Marie Saudubray

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

29

Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia

SVETLANA GATAULLINA, GEORGES DELLATOLAS, HERVÉ PERDRY, JEAN-JACQUES ROBERT, VASSILI VALAYANNOPOULOS, GUY TOUATI, CHRIS OTTOLENGHI, OLIVIER DULAC, PASCALE DE LONLAY

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 152 KB

english, 2012

30

Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency

Trotier-Faurion, Alexandra, Passirani, Catherine, Béjaud, Jérôme, Dézard, Sophie, Valayannopoulos, Vassili, Taran, Fréderic, de Lonlay, Pascale, Benoit, Jean-Pierre, Mabondzo, Aloïse

Journal:

Year:

2015

Language:

english

File:

PDF, 2.54 MB

english, 2015

31

In Vitro Recovery of ATP-Sensitive Potassium Channels in -Cells From Patients With Congenital Hyperinsulinism of Infancy

Powell, P. D., Bellanne-Chantelot, C., Flanagan, S. E., Ellard, S., Rooman, R., Hussain, K., Skae, M., Clayton, P., de Lonlay, P., Dunne, M. J., Cosgrove, K. E.

Journal:

Year:

2011

Language:

english

File:

PDF, 1018 KB

english, 2011

32

Proposal for a Standardized Protocol for 18F-DOPA-PET (PET/CT) in Congenital Hyperinsulinism

Mohnike, K., Blankenstein, O., Christesen, H.T., De Lonlay, J., Hussain, K., Koopmans, K.P., Minn, H., Mohnike, W., Mutair, A., Otonkoski, T., Rahier, J., Ribeiro, M., Schoenle, E., F&eacute, k&eacute,

Journal:

Hormone Research

Year:

2006

Language:

english

File:

PDF, 71 KB

english, 2006

33

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

de Lonlay, P., Seta, N., Barrot, S., Chabrol, B., Drouin, V., Gabriel, B. M., Journel, H., Kretz, M., Laurent, J., Le Merrer, M., Leroy, A., Pedespan, D., Sarda, P., Villeneuve, N., Schmitz, J., van S

Journal:

Journal of Medical Genetics

Year:

2001

Language:

english

File:

PDF, 262 KB

english, 2001

34

Respiratory Chain Deficiency in Alpers Syndrome

Gauthier-Villars, Marion, Landrieu, P., Cormier-Daire, Valérie, Jacquemin, E., Chrétien, D., Rötig, Agnès, Rustin, P., Munnich, A., de Lonlay, Pascale

Journal:

Neuropediatrics

Year:

2001

Language:

english

File:

PDF, 52 KB

english, 2001

35

Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase 1

MacMullen, Courtney, Fang, Jie, Hsu, Betty Y. L., Kelly, Andrea, de Lonlay-Debeney, Pascale, Saudubray, Jean-Marie, Ganguly, Arupa, Smith, Thomas J., Stanley, Charles A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 345 KB

english, 2001

36

What’s new in metabolic and genetic hypoglycaemias: diagnosis and management

Vassili Valayannopoulos, Stéphane Romano, Karine Mention, Anne Vassault, Daniel Rabier, Michel Polak, Jean-Jacques Robert, Yves de Keyzer, Pascale de Lonlay

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

37

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

Pascale de Lonlay,Jean-Christophe Fournet,Guy Touati…

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 122 KB

english, 2000

38

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chretien, Dimitri Schlemmer, Anne Lombes, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny, Arnold Munnich, Agnè

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 905 KB

english, 2008

39

Reply

Vassili Valayannopoulos, Pascale de Lonlay

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

40

Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

Vassili Valayannopoulos, Nanda M. Verhoeven, Karine Mention, Gajja S. Salomons, Danièle Sommelet, Marie Gonzales, Guy Touati, Pascale de Lonlay, Cornelis Jakobs, Jean-Marie Saudubray

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 435 KB

english, 2006

41

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

Paule Bénit, Dominique Chretien, Nohman Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier-Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.39 MB

english, 2001

42

Relative Enzymatic Activity Levels from In Silico Mutagenesis.

Mellot-Draznieks, Caroline, Valayannopoulos, Vassili, Chrétien, Dominique, Munnich, Arnold, de Lonlay, Pascale, Toulhoat, Hervé

Journal:

Year:

2012

Language:

english

File:

PDF, 1.44 MB

english, 2012

43

Inborn errors of metabolism underlying primary immunodeficiencies

Parvaneh, Nima, Quartier, Pierre, Rostami, Parastoo, Casanova, Jean-Laurent, de Lonlay, Pascale

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 803 KB

english, 2014

44

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Défaut de glycosylation des glycoprotéines (CDG)

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 322 KB

french, 2013

45

Clinical Features of 52 Neonates with Hyperinsulinism

de Lonlay-Debeney, Pascale, Poggi-Travert, Florence, Fournet, Jean-Christophe, Sempoux, Christine, Vici, Carlo Dionisi, Brunelle, Francis, Touati, Guy, Rahier, Jacques, Junien, Claudine, Nihoul-Fékété

Journal:

Boston Medical and Surgical Journal

Year:

1999

Language:

english

File:

PDF, 336 KB

english, 1999

46

Molar Tooth Sign and Superior Vermian Dysplasia: A Radiological, Clinical, and Genetic Study

S. Romano, N. Boddaert, I. Desguerre, L. Hubert, R. Salomon, D. Seidenwurm, N. Bahi-buisson, R. Nabbout, P. Sonigo, S. Lyonnet, F. Brunelle, A. Munnich, P. De Lonlay

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

47

Évaluation de la puberté et de la fertilité des patients atteints de galactosémie

Perrissin Fabert, M., Flechtner, I., Viaud, M., Mollet-Boudjemline, A., Touraine, P., Labrune, P., De Lonlay, P., Bidet, M., Polak, M.

Journal:

Annales d'Endocrinologie

Year:

2018

Language:

french

File:

PDF, 207 KB

french, 2018

48

Syndrome myogène et acidose métabolique, penser au déficit multiple en acyl-coenzyme A déshydrogénase

Dernoncourt, A., Bouchereau, J., Cécile, A.B., Wicker, C., de Lonlay, P., Clément, G., Merle, P., Maizel, J., Clement, B.

Journal:

La Revue de Médecine Interne

Year:

2019

Language:

french

File:

PDF, 180 KB

french, 2019

49

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Angels García-Cazorla, Daniel Rabier, Guy Touati, Bernadette Chadefaux-Vekemans, Cécile Marsac, Pascale de Lonlay, Jean-Marie Saudubray

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

50

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

J. M. Saudubray, P. De Lonlay, G. Touati, D. Martin, M. C. Nassogne, P. Castelnau, C. Sevin, C. Laborde, C. Baussan, M. Brivet, A. Vassault, D. Rabier, J. P. Bonnefont, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 131 KB

english, 2000

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