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Scientific Reports
|
December 17, 2017
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases
F Boemer, C Fasquelle, S d'Otreppe, et al.
Journal of Medical Genetics
|
November 4, 2008
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
F-G Debray, M Lambert, B Lemieux, et al.
Clinical Genetics
|
April 2, 2015
Diagnostic pitfall in antenatal manifestations of CPT II deficiency
F Boemer, M Deberg, R Schoos, et al.
Cell Transplantation
|
August 15, 2012
Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria
X Stéphenne, F G Debray, F Smets, et al.
Neurology
|
July 2, 2008
Reduced brain choline in homocystinuria due to remethylation defects
F-G Debray, Y Boulanger, A Khiat, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
Scientific Reports
|
December 17, 2017
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases
F Boemer, C Fasquelle, S d'Otreppe, et al.
Journal of Medical Genetics
|
November 4, 2008
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
F-G Debray, M Lambert, B Lemieux, et al.
Clinical Genetics
|
April 2, 2015
Diagnostic pitfall in antenatal manifestations of CPT II deficiency
F Boemer, M Deberg, R Schoos, et al.
Cell Transplantation
|
August 15, 2012
Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria
X Stéphenne, F G Debray, F Smets, et al.
Neurology
|
July 2, 2008
Reduced brain choline in homocystinuria due to remethylation defects
F-G Debray, Y Boulanger, A Khiat, et al.
Page
of 2