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Journal of Inherited Metabolic Disease
|
January 21, 2023
Validation of a targeted metabolomics panel for improved second-tier newborn screening
Justin Mak, Gang Peng, Anthony Le, et al.
Molecular Genetics and Metabolism
|
July 12, 2003
Congenital disorder of glycosylation Ic in patients of Indian origin
J W Newell, N-S Seo, G M Enns, et al.
Molecular Genetics and Metabolism Reports
|
July 19, 2021
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a <i>de novo</i> pathogenic variant in <i>PHKA2</i>
J Andres Morales, Christina G Tise, Amrita Narang, et al.
JIMD Reports
|
September 10, 2019
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization
Michelle F Huffaker, Anne Y Liu, Gregory M Enns, et al.
The American Journal of Psychiatry
|
August 1, 1995
Desire for death in the terminally ill
H M Chochinov, K G Wilson, M Enns, et al.
The New England Journal of Medicine
|
June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M Enns, Susan A Berry, Gerard T Berry, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
January 30, 2009
Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy
N Yuan, Y Y El-Sayed, S J Ruoss, et al.
American Journal of Medical Genetics
|
October 27, 1998
Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review
G M Enns, V A Cox, R B Goldstein, et al.
American Journal of Medical Genetics
|
September 14, 1999
Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
G M Enns, E Roeder, R T Chan, et al.
Journal of Inherited Metabolic Disease
|
July 10, 1999
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin
G M Enns, A J Barkovich, D S Rosenblatt, et al.
Page
of 21
Search research articles
Search
Showing results (81-90 of 208) with videos related to
Sort By:
Page
of 21
Journal of Inherited Metabolic Disease
|
January 21, 2023
Validation of a targeted metabolomics panel for improved second-tier newborn screening
Justin Mak, Gang Peng, Anthony Le, et al.
Molecular Genetics and Metabolism
|
July 12, 2003
Congenital disorder of glycosylation Ic in patients of Indian origin
J W Newell, N-S Seo, G M Enns, et al.
Molecular Genetics and Metabolism Reports
|
July 19, 2021
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a <i>de novo</i> pathogenic variant in <i>PHKA2</i>
J Andres Morales, Christina G Tise, Amrita Narang, et al.
JIMD Reports
|
September 10, 2019
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization
Michelle F Huffaker, Anne Y Liu, Gregory M Enns, et al.
The American Journal of Psychiatry
|
August 1, 1995
Desire for death in the terminally ill
H M Chochinov, K G Wilson, M Enns, et al.
The New England Journal of Medicine
|
June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M Enns, Susan A Berry, Gerard T Berry, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
January 30, 2009
Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy
N Yuan, Y Y El-Sayed, S J Ruoss, et al.
American Journal of Medical Genetics
|
October 27, 1998
Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review
G M Enns, V A Cox, R B Goldstein, et al.
American Journal of Medical Genetics
|
September 14, 1999
Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
G M Enns, E Roeder, R T Chan, et al.
Journal of Inherited Metabolic Disease
|
July 10, 1999
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin
G M Enns, A J Barkovich, D S Rosenblatt, et al.
Page
of 21