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Journal of Clinical Microbiology
|
September 10, 2010
Interlaboratory evaluation of different extraction and real-time PCR methods for detection of Coxiella burnetii DNA in serum
Jeroen J H C Tilburg, Willem J G Melchers, Annika M Pettersson, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
European Journal of Pediatrics
|
September 8, 2006
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
Maaike C de Vries, Richard J Rodenburg, Eva Morava, et al.
Emerging Infectious Diseases
|
April 20, 2023
Presence of Burkholderia pseudomallei in Soil, Nigeria, 2019
Jelmer Savelkoel, Rita O Oladele, Chiedozie K Ojide, et al.
Journal of Inherited Metabolic Disease
|
December 18, 2019
The 1-<sup>13</sup> C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
Mendy M Welsink-Karssies, Dewi van Harskamp, Sacha Ferdinandusse, et al.
JIMD Reports
|
September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Marne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.
Orphanet Journal of Rare Diseases
|
July 12, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
Karen Anjema, Margreet van Rijn, Floris C Hofstede, et al.
Journal of Inherited Metabolic Disease
|
February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
Maaike C De Vries, David A Brown, Mitchell E Allen, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Plos One
|
September 2, 2009
Caspase-12 and the inflammatory response to Yersinia pestis
Bart Ferwerda, Matthew B B McCall, Maaike C de Vries, et al.
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Search research articles
Search
Showing results (21-30 of 52) with videos related to
Sort By:
Page
of 6
Journal of Clinical Microbiology
|
September 10, 2010
Interlaboratory evaluation of different extraction and real-time PCR methods for detection of Coxiella burnetii DNA in serum
Jeroen J H C Tilburg, Willem J G Melchers, Annika M Pettersson, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
European Journal of Pediatrics
|
September 8, 2006
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
Maaike C de Vries, Richard J Rodenburg, Eva Morava, et al.
Emerging Infectious Diseases
|
April 20, 2023
Presence of Burkholderia pseudomallei in Soil, Nigeria, 2019
Jelmer Savelkoel, Rita O Oladele, Chiedozie K Ojide, et al.
Journal of Inherited Metabolic Disease
|
December 18, 2019
The 1-<sup>13</sup> C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
Mendy M Welsink-Karssies, Dewi van Harskamp, Sacha Ferdinandusse, et al.
JIMD Reports
|
September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Marne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.
Orphanet Journal of Rare Diseases
|
July 12, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
Karen Anjema, Margreet van Rijn, Floris C Hofstede, et al.
Journal of Inherited Metabolic Disease
|
February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
Maaike C De Vries, David A Brown, Mitchell E Allen, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Plos One
|
September 2, 2009
Caspase-12 and the inflammatory response to Yersinia pestis
Bart Ferwerda, Matthew B B McCall, Maaike C de Vries, et al.
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of 6