E-LIB Suche - Ergebnisse für: Saudubray, Jean-Marie

1

Inborn Metabolic Diseases: Diagnosis and Treatment:

Saudubray, Jean-Marie ; Baumgartner, Matthias R ; García-Cazorla, Ángeles. - 7th ed. 2022 . , 2022

Link: https://doi.org/10.1007/..

2

Disorders of Cellular Trafficking:

, In: Inborn Metabolic Diseases,

García-Cazorla, Ángeles ; Dionisi-Vici, Carlo ; Saudubray, Jean-Marie - p. 833-858 , 2022

Link: https://doi.org/10.1007/..

3

Genetic disorders of cellular trafficking:

García-Cazorla, Angeles ; Oyarzábal, Alfonso ; Saudubray, Jean-Marie..
Trends in Genetics. 38 (2022) 7 - p. 724-751 , 2022

Link: https://doi.org/10.1016/..

4

Clinical Approach to Inborn Errors of Metabolism in Paediat..:

, In: Inborn Metabolic Diseases,

Saudubray, Jean-Marie ; García-Cazorla, Ángeles - p. 3-123 , 2022

Link: https://doi.org/10.1007/..

5

Inborn Errors of Metabolism Overview:

Saudubray, Jean-Marie ; Garcia-Cazorla, Àngels
Pediatric Clinics of North America. 65 (2018) 2 - p. 179-208 , 2018

Link: https://doi.org/10.1016/..

6

An overview of inborn errors of metabolism affecting the br..:

Saudubray, Jean-Marie ; Garcia-Cazorla, Angela
Dialogues in Clinical Neuroscience. 20 (2018) 4 - p. 301-325 , 2018

Link: https://doi.org/10.31887..

7

Alteration of ornithine metabolism leads to dominant and re..:

Coutelier, Marie ; Goizet, Cyril ; Durr, Alexandra...
Brain. 138 (2015) 8 - p. 2191-2205 , 2015

Link: https://doi.org/10.1093/..

8

Reply:ALDH18A1gene mutations cause dominant spastic paraple..:

Coutelier, Marie ; Mochel, Fanny ; Saudubray, Jean-Marie..
Brain. 139 (2015) 1 - p. e4-e4 , 2015

Link: https://doi.org/10.1093/..

9

Glucose Metabolism in 105 Children and Adolescents After Pa..:

Beltrand, Jacques ; Caquard, Marylène ; Arnoux, Jean-Baptiste...
Diabetes Care. 35 (2012) 2 - p. 198-203 , 2012

Link: https://doi.org/10.2337/..

10

Endocrine manifestations related to inherited metabolic dis..:

Vantyghem, Marie-Christine ; Dobbelaere, Dries ; Mention, Karine...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. 11 , 2012

Link: https://doi.org/10.1186/..

11

Hypoglycaemia related to inherited metabolic diseases in ad..:

Douillard, Claire ; Mention, Karine ; Dobbelaere, Dries...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. 26 , 2012

Link: https://doi.org/10.1186/..

12

Biomarkers Identified in Inborn Errors for Lysine, Arginine..:

Saudubray, Jean-Marie ; Rabier, Daniel
The Journal of Nutrition. 137 (2007) 6 - p. 1669S-1672S , 2007

Link: https://doi.org/10.1093/..

13

Therapy Insight: inborn errors of metabolism in adult neuro..:

Sedel, Frédéric ; Lyon-Caen, Olivier ; Saudubray, Jean-Marie
Nature Clinical Practice Neurology. 3 (2007) 5 - p. 279-290 , 2007

Link: https://doi.org/10.1038/..

14

Inborn Metabolic Diseases

Diagnosis and Treatment SpringerLink, Bücher

Saudubray, Jean-Marie ; Berghe, Georges ; Fernandes, John. - Fourth, Revised Edition . , 2006

Link: http://dx.doi.org/10.100..

15

Emergency Treatments:

, In: Inborn Metabolic Diseases,

Prietsch, Viola ; Ogier de Baulny, Hélène ; Saudubray, Jean-Marie - p. 71-79 , 2006

Link: https://doi.org/10.1007/..