J-M Saudubray
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Explore the profile of J-M Saudubray including associated specialties, affiliations and a list of published articles.
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16
Citations
264
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Recent Articles
1.
Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, Ogier de Baulny H, et al.
Mol Genet Metab
. 2011 Sep;
104(4):507-16.
PMID: 21914562
Background: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1α subunit (PDHA1)...
2.
Saudubray J, Sedel F
Ann Endocrinol (Paris)
. 2009 Jan;
70(1):14-24.
PMID: 19178907
We present a simplified classification of treatable inborn errors of metabolism (IEM) in three groups with a special focus on those disorders observed at adult age. Group 1 includes inborn...
3.
Sedel F, Saudubray J, Roze E, Agid Y, Vidailhet M
J Inherit Metab Dis
. 2008 Jun;
31(3):308-18.
PMID: 18563632
Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases,...
4.
Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray J, et al.
J Inherit Metab Dis
. 2008 Mar;
31(3):295-307.
PMID: 18344012
The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and...
5.
Sedel F, Lyon-Caen O, Saudubray J
Rev Neurol (Paris)
. 2007 Nov;
163(10):884-96.
PMID: 18033024
Hereditary metabolic diseases may appear during adolescence or young adulthood, revealed by an apparently unexplained neurological or psychiatric disorder. Certain metabolic diseases respond to specific treatments and should be identified...
6.
Sedel F, Gourfinkel-An I, Lyon-Caen O, Baulac M, Saudubray J, Navarro V
J Inherit Metab Dis
. 2007 Oct;
30(6):846-54.
PMID: 17957491
Inborn errors of metabolism (IEMs) represent poorly known causes of epilepsy in adulthood. Although rare, these are important to recognize for several reasons: some IEMs respond to specific treatments, some...
7.
Sedel F, Baumann N, Turpin J, Lyon-Caen O, Saudubray J, Cohen D
J Inherit Metab Dis
. 2007 Aug;
30(5):631-41.
PMID: 17694356
Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or because psychiatric...
8.
Sedel F, Ribeiro M, Remy P, Blau N, Saudubray J, Agid Y
Neurology
. 2006 Dec;
67(12):2243-5.
PMID: 17190955
We report an adult patient lacking endogenous synthesis of monoamines (dopamine, serotonin, and catecholamines) due to a severe dihydropteridine reductase (DHPR) deficiency. With levodopa and 5-hydroxytryptophan (5HTP) supplementation, the patient...
9.
Macdonald A, Depondt E, Evans S, Daly A, Hendriksz C, Chakrapani A A, et al.
J Inherit Metab Dis
. 2006 Jun;
29(2-3):299-303.
PMID: 16763891
Breast feeding has proven benefits for many infants with inherited metabolic disorders (IMDs) but, with the exception of phenylketonuria, there are few reports in other conditions. A questionnaire, completed by...
10.
Touati G, Valayannopoulos V, Mention K, de Lonlay P, Jouvet P, Depondt E, et al.
J Inherit Metab Dis
. 2006 Jun;
29(2-3):288-98.
PMID: 16763890
In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30...