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                             48 results found
no title author magazine year volume issue page(s) type
1 Allelic variations in superoxide dismutase-1 (SOD1) gene are associated with increased risk of diabetic nephropathy in type 1 diabetic subjects Mohammedi, Kamel
 2011
 104 4 p. 654-660
7 p.
 article
2 A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study Fiermonte, Giuseppe
 2011
 104 4 p. 501-506
6 p.
 article
3 A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: Targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population Pelleymounter, Linda L.
 2011
 104 4 p. 457-469
13 p.
 article
4 A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence Yagi, Mariko
 2011
 104 4 p. 556-559
4 p.
 article
5 Association of ACACB polymorphisms with obesity and diabetes Riancho, J.A.
 2011
 104 4 p. 670-676
7 p.
 article
6 Atypical immunologic response in a patient with CRIM-negative Pompe disease Abbott, Mary-Alice
 2011
 104 4 p. 583-586
4 p.
 article
7 Biotinylation is a natural, albeit rare, modification of human histones Kuroishi, Toshinobu
 2011
 104 4 p. 537-545
9 p.
 article
8 Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections Ting, Joseph
 2011
 104 4 p. 708-709
2 p.
 article
9 Carotid intima-media thickness is increased in patients with mucopolysaccharidoses Wang, Raymond Y.
 2011
 104 4 p. 592-596
5 p.
 article
10 Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation Cozzolino, Mariarosaria
 2011
 104 4 p. 706-707
2 p.
 article
11 Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency Achouitar, Samira
 2011
 104 4 p. 691-694
4 p.
 article
12 Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing Berger, Itai
 2011
 104 4 p. 517-520
4 p.
 article
13 Editorial Board 2011
 104 4 p. IFC-
1 p.
 article
14 Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity Mbikay, Majambu
 2011
 104 4 p. 682-687
6 p.
 article
15 Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation Shimada, Yohta
 2011
 104 4 p. 566-573
8 p.
 article
16 Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI Furujo, Mahoko
 2011
 104 4 p. 597-602
6 p.
 article
17 Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme Couce, Ma Luz
 2011
 104 4 p. 470-475
6 p.
 article
18 Eye development genes and known syndromes Slavotinek, Anne M.
 2011
 104 4 p. 448-456
9 p.
 article
19 First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease de Vries, Juna M.
 2011
 104 4 p. 552-555
4 p.
 article
20 Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy Tylki-Szymańska, Anna
 2011
 104 4 p. 627-630
4 p.
 article
21 Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil Costa-Motta, Fabiana Moura
 2011
 104 4 p. 603-607
5 p.
 article
22 GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: Implications for understanding genetic association signals at this locus McCulloch, Laura J.
 2011
 104 4 p. 648-653
6 p.
 article
23 Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice Primassin, Sonja
 2011
 104 4 p. 546-551
6 p.
 article
24 Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease Gunay-Aygun, Meral
 2011
 104 4 p. 677-681
5 p.
 article
25 Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin Imtiaz, Faiqa
 2011
 104 4 p. 688-690
3 p.
 article
26 Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS Oladipo, Olajumoke O.
 2011
 104 4 p. 476-479
4 p.
 article
27 Intragenic deletion as a novel type of mutation in Wolman disease Lee, Teresa M.
 2011
 104 4 p. 703-705
3 p.
 article
28 Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency Saheki, Takeyori
 2011
 104 4 p. 492-500
9 p.
 article
29 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein Imbard, A.
 2011
 104 4 p. 507-516
10 p.
 article
30 Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype Jurecka, Agnieszka
 2011
 104 4 p. 695-699
5 p.
 article
31 Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A Lambourne, Melissa D.
 2011
 104 4 p. 620-626
7 p.
 article
32 Newborn screening for Pompe disease in Japan Oda, Eri
 2011
 104 4 p. 560-565
6 p.
 article
33 Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation Baldo, Guilherme
 2011
 104 4 p. 608-619
12 p.
 article
34 Physical development in patients with phenylketonuria on dietary treatment: A retrospective study Belanger-Quintana, Amaya
 2011
 104 4 p. 480-484
5 p.
 article
35 Promoter mutation is a common variant in GJC2-associated Pelizaeus–Merzbacher-like disease Meyer, E.
 2011
 104 4 p. 637-643
7 p.
 article
36 Shared genetic variance between the features of the metabolic syndrome: Heritability studies Povel, C.M.
 2011
 104 4 p. 666-669
4 p.
 article
37 SIRT1 is associated with a decrease in acute insulin secretion and a sex specific increase in risk for type 2 diabetes in Pima Indians Dong, Yan
 2011
 104 4 p. 661-665
5 p.
 article
38 Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Wu, Y.
 2011
 104 4 p. 587-591
5 p.
 article
39 Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications Chan, Aegean
 2011
 104 4 p. 631-636
6 p.
 article
40 Table of Contents 2011
 104 4 p. iii-vi
nvt p.
 article
41 Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide Haghighi, Alireza
 2011
 104 4 p. 700-702
3 p.
 article
42 The higher susceptibility of congenital analbuminemic rats to Ca2+-induced mitochondrial permeability transition is associated with the increased expression of cyclophilin D and nitrosothiol depletion Figueira, Tiago R.
 2011
 104 4 p. 521-528
8 p.
 article
43 The 8-hydroxydeoxyguanosine concentrations according to hormone therapy and S326C polymorphism of OGG1 gene in postmenopausal women Kim, Hoon
 2011
 104 4 p. 644-647
4 p.
 article
44 The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics Al-Jasmi, Fatma
 2011
 104 4 p. 529-536
8 p.
 article
45 The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry Roberts, Mark
 2011
 104 4 p. 574-582
9 p.
 article
46 Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future Goker-Alpan, Ozlem
 2011
 104 4 p. 438-447
10 p.
 article
47 The unsolved puzzle of neuropathogenesis in glutaric aciduria type I Jafari, Paris
 2011
 104 4 p. 425-437
13 p.
 article
48 Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria Singh, Rani H.
 2011
 104 4 p. 485-491
7 p.
 article
                             48 results found
 
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