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Molecular Genetics and Metabolism
|
February 8, 2005
Hyperargininemia due to liver arginase deficiency
Eric A Crombez, Stephen D Cederbaum
Clinical Dysmorphology
|
September 13, 2005
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21
Eric A Crombez, Katrina M Dipple, Lisa A Schimmenti, et al.
Molecular Genetics and Metabolism
|
February 29, 2008
Maternal glutaric acidemia, type I identified by newborn screening
Eric A Crombez, Stephen D Cederbaum, Elaine Spector, et al.
The Journal of Pediatrics
|
December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism
Isabelle R Miousse, David Watkins, David Coelho, et al.
Molecular Genetics and Metabolism
|
November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiency
Lisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
The Journal of Pediatrics
|
March 6, 2009
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
Friedrich K Trefz, Barbara K Burton, Nicola Longo, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Molecular Genetics and Metabolism
|
February 8, 2005
Hyperargininemia due to liver arginase deficiency
Eric A Crombez, Stephen D Cederbaum
Clinical Dysmorphology
|
September 13, 2005
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21
Eric A Crombez, Katrina M Dipple, Lisa A Schimmenti, et al.
Molecular Genetics and Metabolism
|
February 29, 2008
Maternal glutaric acidemia, type I identified by newborn screening
Eric A Crombez, Stephen D Cederbaum, Elaine Spector, et al.
The Journal of Pediatrics
|
December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism
Isabelle R Miousse, David Watkins, David Coelho, et al.
Molecular Genetics and Metabolism
|
November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiency
Lisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
The Journal of Pediatrics
|
March 6, 2009
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
Friedrich K Trefz, Barbara K Burton, Nicola Longo, et al.
Page
of 1