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JIMD Reports
|
May 6, 2016
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
M A Spitz, M A Nguyen, S Roche, et al.
Science (New York, N.Y.)
|
October 8, 2011
An activating mutation of AKT2 and human hypoglycemia
K Hussain, B Challis, N Rocha, et al.
Journal of Medical Genetics
|
August 4, 2010
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
T Dupré, S Vuillaumier-Barrot, I Chantret, et al.
Journal of Medical Genetics
|
August 6, 2010
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
C Bellanné-Chantelot, C Saint-Martin, M-J Ribeiro, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
August 14, 2012
[Prenatal symptoms and diagnosis of inherited metabolic diseases]
A Brassier, C Ottolenghi, N Boddaert, et al.
The Journal of Pediatrics
|
February 5, 2000
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
P de Lonlay-Debeney, J C von Kleist-Retzow, L Hertz-Pannier, et al.
Annales D'Endocrinologie
|
May 4, 2004
Hyperinsulinemic hypoglycemia in children
P de Lonlay, Irina Giurgea, Jean-Jacques Robert, et al.
Journal of Neuroradiology = Journal De Neuroradiologie
|
April 10, 2010
Posterior fossa imaging in 158 children with ataxia
N Boddaert, I Desguerre, N Bahi-Buisson, et al.
American Journal of Human Genetics
|
October 3, 1998
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic
M Veiga-da-Cunha, I Gerin, Y T Chen, et al.
Molecular Genetics and Metabolism
|
May 10, 2011
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
A Boutron, C Acquaviva, C Vianey-Saban, et al.
Page
of 14
Search research articles
Search
Showing results (111-120 of 131) with videos related to
Sort By:
Page
of 14
JIMD Reports
|
May 6, 2016
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
M A Spitz, M A Nguyen, S Roche, et al.
Science (New York, N.Y.)
|
October 8, 2011
An activating mutation of AKT2 and human hypoglycemia
K Hussain, B Challis, N Rocha, et al.
Journal of Medical Genetics
|
August 4, 2010
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
T Dupré, S Vuillaumier-Barrot, I Chantret, et al.
Journal of Medical Genetics
|
August 6, 2010
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
C Bellanné-Chantelot, C Saint-Martin, M-J Ribeiro, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
August 14, 2012
[Prenatal symptoms and diagnosis of inherited metabolic diseases]
A Brassier, C Ottolenghi, N Boddaert, et al.
The Journal of Pediatrics
|
February 5, 2000
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
P de Lonlay-Debeney, J C von Kleist-Retzow, L Hertz-Pannier, et al.
Annales D'Endocrinologie
|
May 4, 2004
Hyperinsulinemic hypoglycemia in children
P de Lonlay, Irina Giurgea, Jean-Jacques Robert, et al.
Journal of Neuroradiology = Journal De Neuroradiologie
|
April 10, 2010
Posterior fossa imaging in 158 children with ataxia
N Boddaert, I Desguerre, N Bahi-Buisson, et al.
American Journal of Human Genetics
|
October 3, 1998
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic
M Veiga-da-Cunha, I Gerin, Y T Chen, et al.
Molecular Genetics and Metabolism
|
May 10, 2011
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
A Boutron, C Acquaviva, C Vianey-Saban, et al.
Page
of 14