| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A structure–function study of MID1 mutations associated with a mild Opitz phenotype
|
Mnayer, Laila
|
|
2006
|
87 |
3 |
p. 198-203
6 p.
|
article
|
| 2 |
Biochemical properties of recombinant human and mouse N-acetylglutamate synthase
|
Caldovic, Ljubica
|
|
2006
|
87 |
3 |
p. 226-232
7 p.
|
article
|
| 3 |
Cerebral glucose metabolism in adults with early treated classic phenylketonuria
|
Wasserstein, M.P.
|
|
2006
|
87 |
3 |
p. 272-277
6 p.
|
article
|
| 4 |
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
|
Loupatty, Ference J.
|
|
2006
|
87 |
3 |
p. 243-248
6 p.
|
article
|
| 5 |
Corrigendum to “Canavan disease: A monogenic trait with complex genomic interaction” [Mol. Genet. Metab. 80 (2003) 74–80]
|
Surendran, Sankar
|
|
2006
|
87 |
3 |
p. 279-
1 p.
|
article
|
| 6 |
Editorial Board
|
|
|
2006
|
87 |
3 |
p. CO2-
1 p.
|
article
|
| 7 |
Engulfed
|
Gahl, William A.
|
|
2006
|
87 |
3 |
p. 190-193
4 p.
|
article
|
| 8 |
Erratum to “Pyruvate carboxylase deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]
|
Nyhan, William L.
|
|
2006
|
87 |
3 |
p. 278-
1 p.
|
article
|
| 9 |
Foreword
|
Tuchman, Mendel
|
|
2006
|
87 |
3 |
p. 179-
1 p.
|
article
|
| 10 |
From an inborn error patient to a search for regulatory meaning: A biotin conducted voyage
|
Velázquez-Arellano, Antonio
|
|
2006
|
87 |
3 |
p. 194-197
4 p.
|
article
|
| 11 |
Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism
|
Goetzman, Eric S.
|
|
2006
|
87 |
3 |
p. 233-242
10 p.
|
article
|
| 12 |
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis
|
Kakela, Justin K.
|
|
2006
|
87 |
3 |
p. 262-271
10 p.
|
article
|
| 13 |
Liver failure and neurologic disease in a patient with homocystinuria
|
Snyderman, Selma E.
|
|
2006
|
87 |
3 |
p. 210-212
3 p.
|
article
|
| 14 |
Modulation of 6-phosphofructo-1-kinase oligomeric equilibrium by calmodulin: Formation of active dimmers
|
Marinho-Carvalho, Monica M.
|
|
2006
|
87 |
3 |
p. 253-261
9 p.
|
article
|
| 15 |
Molecular, biochemical, and genetic characterization of a female patient with Lesch–Nyhan disease
|
Rinat, Choni
|
|
2006
|
87 |
3 |
p. 249-252
4 p.
|
article
|
| 16 |
Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients
|
Laradi, S.
|
|
2006
|
87 |
3 |
p. 213-218
6 p.
|
article
|
| 17 |
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria
|
Lerner-Ellis, Jordan P.
|
|
2006
|
87 |
3 |
p. 219-225
7 p.
|
article
|
| 18 |
New frontiers in hereditary metabolic disease: An historical perspective
|
Cederbaum, Stephen D.
|
|
2006
|
87 |
3 |
p. 184-189
6 p.
|
article
|
| 19 |
Table of Contents
|
|
|
2006
|
87 |
3 |
p. i-ii
nvt p.
|
article
|
| 20 |
The high price of false positives
|
Howell, R. Rodney
|
|
2006
|
87 |
3 |
p. 180-183
4 p.
|
article
|
| 21 |
The history of the SIMD: From small molecules to metabolomics
|
Elsas, Louis J.
|
|
2006
|
87 |
3 |
p. 204-209
6 p.
|
article
|
Journal description