| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia
|
Okano, Yoshiyuki
|
|
|
133 |
1 |
p. 63-70
|
article
|
| 2 |
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias
|
Armstrong, Allison J.
|
|
|
133 |
1 |
p. 71-82
|
article
|
| 3 |
Bloom syndrome and the underlying causes of genetic instability
|
Ababou, Mouna
|
|
|
133 |
1 |
p. 35-48
|
article
|
| 4 |
Cover 2 / Ed. Board
|
|
|
|
133 |
1 |
p. IFC
|
article
|
| 5 |
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
|
Burlina, Alberto
|
|
|
133 |
1 |
p. 56-62
|
article
|
| 6 |
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria
|
van Wegberg, AMJ
|
|
|
133 |
1 |
p. 49-55
|
article
|
| 7 |
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome
|
Grange, Robert M.H.
|
|
|
133 |
1 |
p. 83-93
|
article
|
| 8 |
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa
|
Kishnani, Priya S.
|
|
|
133 |
1 |
p. 113-121
|
article
|
| 9 |
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study
|
Horovitz, Dafne D.G.
|
|
|
133 |
1 |
p. 94-99
|
article
|
| 10 |
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy
|
Garcia, Paula
|
|
|
133 |
1 |
p. 100-108
|
article
|
| 11 |
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations
|
Dagher, Robin
|
|
|
133 |
1 |
p. 1-7
|
article
|
| 12 |
Table of Contents
|
|
|
|
133 |
1 |
p. iii
|
article
|
| 13 |
The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44
|
Goldstein, Orly
|
|
|
133 |
1 |
p. 109-112
|
article
|
| 14 |
The natural history of neurocognition in MPS disorders: A review
|
Shapiro, Elsa G.
|
|
|
133 |
1 |
p. 8-34
|
article
|
Journal description