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Eric Crombez

Research Profile

Procedures

Living Beings

Newborn Infant

Disorders

Chemicals & Drugs

Anatomy

Chromosomes, Human, Pair 21

Physiology

Gene Duplication

Geographic Areas

North America

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Co-author Network

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Publications

TOP 3
Eric A Crombez; Stephen D Cederbaum; Elaine Spector; Erica Chan; Denise Salazar; Julie Neidich; Stephen Goodman
Maternal glutaric acidemia, type I identified by newborn screening.
B K Burton; D K Grange; A Milanowski; G Vockley; François Feillet; Eric A Crombez; Véronique Abadie; Cary O Harding; Stephen D Cederbaum; D Dobbelaere; A Smith; Alejandro Dorenbaum
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Lisa A Schimmenti; Eric A Crombez; Bernd C Schwahn; Bryce A Heese; Timothy C Wood; Richard J Schroer; Kristi Bentler; Stephen D Cederbaum; Kiki Sarafoglou; Mark McCann; Piero Rinaldo; Dietrich Matern; Cristina Amat di San Filippo; Marzia Pasquali; Susan A Berry; Nicola Longo
Expanded newborn screening identifies maternal primary carnitine deficiency.

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All Publications

2008: Eric A Crombez; Stephen D Cederbaum; Elaine Spector; Erica Chan; Denise Salazar; Julie Neidich; Stephen Goodman
Maternal glutaric acidemia, type I identified by newborn screening.
Molecular genetics and metabolism 2008;94(1):132-4.
2007: B K Burton; D K Grange; A Milanowski; G Vockley; François Feillet; Eric A Crombez; Véronique Abadie; Cary O Harding; Stephen D Cederbaum; D Dobbelaere; A Smith; Alejandro Dorenbaum
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Journal of inherited metabolic disease 2007;30(5):700-7.
2007: Lisa A Schimmenti; Eric A Crombez; Bernd C Schwahn; Bryce A Heese; Timothy C Wood; Richard J Schroer; Kristi Bentler; Stephen D Cederbaum; Kiki Sarafoglou; Mark McCann; Piero Rinaldo; Dietrich Matern; Cristina Amat di San Filippo; Marzia Pasquali; Susan A Berry; Nicola Longo
Expanded newborn screening identifies maternal primary carnitine deficiency.
Molecular genetics and metabolism 2007;90(4):441-5.
2005: Eric A Crombez; Katrina M Dipple; Lisa A Schimmenti; Nagesh Rao
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21.
Clinical dysmorphology 2005;14(4):183-7.
2005: Eric A Crombez; Richard Koch; Stephen Cederbaum
Pitfalls in newborn screening.
The Journal of pediatrics 2005;147(1):119-20.
2005: Eric A Crombez; Stephen D Cederbaum
Hyperargininemia due to liver arginase deficiency.
Molecular genetics and metabolism 2005;84(3):243-51.

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