1.
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
by Freeze, Hudson H
American journal of human genetics, 2014-02-06, Vol.94 (2), p.161-175
2.
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
by Malfait, Fransiska
American journal of human genetics, 2013-06-06, Vol.92 (6), p.935-945
3.
Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
by Lefeber, Dirk J
American journal of human genetics, 2009, Vol.85 (1), p.76-86
4.
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
by Ng, Bobby G
American journal of human genetics, 2013-04-04, Vol.92 (4), p.632-636
5.
Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
by Ng, Bobby G
American journal of human genetics, 2012-04-06, Vol.90 (4), p.685-688
6.
DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation
by Jones, Melanie A
American journal of human genetics, 2012-02-10, Vol.90 (2), p.363-368
7.
A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy
by Kranz, Christian
American journal of human genetics, 2007, Vol.80 (3), p.433-440
8.
Epimerase-Deficiency Galactosemia Is Not a Binary Condition
by Openo, Kimberly K
American journal of human genetics, 2006, Vol.78 (1), p.89-102
9.
Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia
by Arikawa-Hirasawa, Eri
American journal of human genetics, 2002-05, Vol.70 (5), p.1368-1375
10.
Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation
by Haeuptle, Micha A
American journal of human genetics, 2008, Vol.82 (3), p.600-606
11.
Mutations in the Human UDP- N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme
by Seppala, Raili
American journal of human genetics, 1999, Vol.64 (6), p.1563-1569
12.
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant
by SCHEPERS, U
American journal of human genetics, 1996, Vol.59 (5), p.1048-1056
13.
Phenotype/genotype correlations in Gaucher disease type 1 : clinical and therapeutic implications
by SIBILLE, A
American journal of human genetics, 1993, Vol.52 (6), p.1094-1101
14.
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
by HOROWITZ, M
American journal of human genetics, 1993, Vol.53 (4), p.921-930
15.
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel : multiple allelic mutations of the IDUA gene in a small geographic area
by BACH, G
American journal of human genetics, 1993, Vol.53 (2), p.330-338
16.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) : six unique arylsulfatase B gene alleles causing variable disease phenotypes
by ISBRANDT, D
American journal of human genetics, 1994, Vol.54 (3), p.454-463
17.
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
by Triggs-Raine, B L
American journal of human genetics, 1992-10, Vol.51 (4), p.793-801
18.
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes
by SHIPLEY, J. M
American journal of human genetics, 1993, Vol.52 (3), p.517-526
19.
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis
by OEHLMANN, R
American journal of human genetics, 1993, Vol.53 (6), p.1250-1255
20.
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy
by KREYSING, J
American journal of human genetics, 1993, Vol.53 (2), p.339-346
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