| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A Sequence Variation in the Mitochondrial Glycerol-3-Phosphate Dehydrogenase Gene Is Associated with Increased Plasma Glycerol and Free Fatty Acid Concentrations among French Canadians
|
St-Pierre, Julie
|
|
2001
|
72 |
3 |
p. 209-217
9 p.
|
article
|
| 2 |
Congenital Lactic Acidosis: Evaluation of the Properties of the A199T Natural Variant of Human Pyruvate Dehydrogenase E1α by in Vitro Mutation
|
Wu, Yong-Ge
|
|
2001
|
72 |
3 |
p. 269-272
4 p.
|
article
|
| 3 |
2,8-Dihydroxyadenine Urolithiasis in a Patient with Considerable Residual Adenine Phosphoribosyltransferase Activity in Cell Extracts but with Mutations in Both Copies of APRT
|
Deng, Li
|
|
2001
|
72 |
3 |
p. 260-264
5 p.
|
article
|
| 4 |
Enzyme Replacement Therapy in Feline Mucopolysaccharidosis I
|
Kakkis, E.D.
|
|
2001
|
72 |
3 |
p. 199-208
10 p.
|
article
|
| 5 |
Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays
|
Mao, Rong
|
|
2001
|
72 |
3 |
p. 248-253
6 p.
|
article
|
| 6 |
Impaired Arachidonic (20:4n-6) and Docosahexaenoic (22:6n-3) Acid Synthesis by Phenylalanine Metabolites as Etiological Factors in the Neuropathology of Phenylketonuria
|
Infante, Juan P.
|
|
2001
|
72 |
3 |
p. 185-198
14 p.
|
article
|
| 7 |
Metabolic Studies of Glycosphingolipid Accumulation in Mucopolysaccharidosis IIID
|
Liour, Sean S.
|
|
2001
|
72 |
3 |
p. 239-247
9 p.
|
article
|
| 8 |
Molecular Diagnosis of Wilson Disease
|
Butler, Patrice
|
|
2001
|
72 |
3 |
p. 223-230
8 p.
|
article
|
| 9 |
Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency
|
Lam, Ching-Wan
|
|
2001
|
72 |
3 |
p. 254-259
6 p.
|
article
|
| 10 |
Nonorthologous Gene Displacement of Phosphomevalonate Kinase
|
Houten, Sander M
|
|
2001
|
72 |
3 |
p. 273-276
4 p.
|
article
|
| 11 |
Placental Floor Infarction Complicating the Pregnancy of a Fetus with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
|
Matern, Dietrich
|
|
2001
|
72 |
3 |
p. 265-268
4 p.
|
article
|
| 12 |
Prenatal Diagnosis of Succinic Semialdehyde Dehydrogenase Deficiency: Increased Accuracy Employing DNA, Enzyme, and Metabolite Analyses
|
Hogema, B.M.
|
|
2001
|
72 |
3 |
p. 218-222
5 p.
|
article
|
| 13 |
Subcutaneous Abdominal Adipocyte Size, a Predictor of Type 2 Diabetes, Is Linked to Chromosome 1q21–q23 and Is Associated with a Common Polymorphism in LMNA in Pima Indians
|
Weyer, Christian
|
|
2001
|
72 |
3 |
p. 231-238
8 p.
|
article
|
Journal description