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The Journal of Clinical Investigation
|
December 26, 2001
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)
C Kranz, J Denecke, M A Lehrman, et al.
Molecular Genetics and Metabolism
|
August 7, 2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study
M Pineda, J E Wraith, E Mengel, et al.
The Journal of Clinical Investigation
|
April 29, 1998
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
R Niehues, M Hasilik, G Alton, et al.
Human Mutation
|
September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
E Schollen, L Dorland, T J de Koning, et al.
Molecular Genetics and Metabolism
|
February 7, 2012
Life with too much polyprenol: polyprenol reductase deficiency
J E H Gründahl, Z Guan, S Rust, et al.
The Journal of Pediatrics
|
June 4, 1999
Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
T Marquardt, T Brune, K Lühn, et al.
JIMD Reports
|
March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
J Reunert, A S Lotz-Havla, G Polo, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screening
S C Grünert, S Müllerleile, L de Silva, et al.
Journal of Inherited Metabolic Disease
|
October 29, 2011
Mutation analysis in 54 propionic acidemia patients
J P Kraus, E Spector, S Venezia, et al.
Page
of 6
Search research articles
Search
Showing results (51-60 of 59) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 59 results.
The Journal of Clinical Investigation
|
December 26, 2001
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)
C Kranz, J Denecke, M A Lehrman, et al.
Molecular Genetics and Metabolism
|
August 7, 2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study
M Pineda, J E Wraith, E Mengel, et al.
The Journal of Clinical Investigation
|
April 29, 1998
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
R Niehues, M Hasilik, G Alton, et al.
Human Mutation
|
September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
E Schollen, L Dorland, T J de Koning, et al.
Molecular Genetics and Metabolism
|
February 7, 2012
Life with too much polyprenol: polyprenol reductase deficiency
J E H Gründahl, Z Guan, S Rust, et al.
The Journal of Pediatrics
|
June 4, 1999
Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
T Marquardt, T Brune, K Lühn, et al.
JIMD Reports
|
March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
J Reunert, A S Lotz-Havla, G Polo, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screening
S C Grünert, S Müllerleile, L de Silva, et al.
Journal of Inherited Metabolic Disease
|
October 29, 2011
Mutation analysis in 54 propionic acidemia patients
J P Kraus, E Spector, S Venezia, et al.
Page
of 6