| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical laboratory studies in Barth Syndrome
|
Vernon, Hilary J.
|
|
2014
|
112 |
2 |
p. 143-147
5 p.
|
artikel
|
| 2 |
CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses
|
Morimoto, Noriko
|
|
2014
|
112 |
2 |
p. 154-159
6 p.
|
artikel
|
| 3 |
Editorial Board
|
|
|
2014
|
112 |
2 |
p. IFC-
1 p.
|
artikel
|
| 4 |
Efficacy of pyruvate therapy in patients with mitochondrial disease: A semi-quantitative clinical evaluation study
|
Fujii, Tatsuya
|
|
2014
|
112 |
2 |
p. 133-138
6 p.
|
artikel
|
| 5 |
Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes
|
Gruchy, N.
|
|
2014
|
112 |
2 |
p. 177-182
6 p.
|
artikel
|
| 6 |
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations
|
Morrone, A.
|
|
2014
|
112 |
2 |
p. 160-170
11 p.
|
artikel
|
| 7 |
National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI)
|
Greene, Carol L.
|
|
2014
|
112 |
2 |
p. 85-86
2 p.
|
artikel
|
| 8 |
Phenylketonuria Scientific Review Conference: State of the science and future research needs
|
Camp, Kathryn M.
|
|
2014
|
112 |
2 |
p. 87-122
36 p.
|
artikel
|
| 9 |
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
|
Illingworth, M.A.
|
|
2014
|
112 |
2 |
p. 183-189
7 p.
|
artikel
|
| 10 |
Pregnancy and delivery in women with Pompe disease
|
Karabul, Nesrin
|
|
2014
|
112 |
2 |
p. 148-153
6 p.
|
artikel
|
| 11 |
Table of Contents
|
|
|
2014
|
112 |
2 |
p. v-vi
nvt p.
|
artikel
|
| 12 |
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
|
Lerner-Ellis, Jordan P.
|
|
2014
|
112 |
2 |
p. 171-176
6 p.
|
artikel
|
| 13 |
Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function
|
Díez-Fernández, Carmen
|
|
2014
|
112 |
2 |
p. 123-132
10 p.
|
artikel
|
| 14 |
Use of propofol for short duration procedures in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiencies
|
Martin, Julie M.
|
|
2014
|
112 |
2 |
p. 139-142
4 p.
|
artikel
|
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