no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
1 |
Disorders of branched chain amino acid metabolism
|
Manoli, I. |
|
2016 |
|
2 |
p. 91-110 |
article |
2 |
Disorders of sterol biosynthesis
|
Furtado, Larissa V. |
|
2016 |
|
2 |
p. 145-182 |
article |
3 |
MZ carrier state in alpha-1 antitrypsin deficiency: Summary of the 16th Gordon L. Snider critical issues workshop, Bethesda, Maryland, November 13, 2017
|
Brantly, Mark |
|
2018 |
|
2 |
p. 105-120 |
article |
4 |
Neuronal ceroid-lipofuscinoses
|
Rakheja, Dinesh |
|
2018 |
|
2 |
p. 83-95 |
article |
5 |
Novel SLC16A2 mutations in Chinese patients with Allan-Herndon-Dudley Syndrome
|
Wang, Jiaping |
|
2018 |
|
2 |
p. 97-103 |
article |
6 |
Peroxisome biogenesis disorders
|
Argyriou, Catherine |
|
2016 |
|
2 |
p. 111-144 |
article |
7 |
Translational research advances a new era of prenatal diagnosis and newborn screening
|
Shulman, Lee P. |
|
2018 |
|
2 |
p. 55-82 |
article |