| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics
|
Burton, Barbara K.
|
|
2013
|
108 |
1 |
p. 8-12
5 p.
|
artikel
|
| 2 |
Association between the SPRY1 gene polymorphism and obesity-related traits and osteoporosis in Korean women
|
Jin, Hyun-Seok
|
|
2013
|
108 |
1 |
p. 95-101
7 p.
|
artikel
|
| 3 |
Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C
|
Walterfang, Mark
|
|
2013
|
108 |
1 |
p. 85-89
5 p.
|
artikel
|
| 4 |
Corrigendum to “Rapid clearance of supplemented tetrahydrobiopterin is driven by high-capacity transporters in the kidney” [Molecular Genetics and Metabolism 105/4 (2012) 575–581]
|
Ohashi, Akiko
|
|
2013
|
108 |
1 |
p. 107-
1 p.
|
artikel
|
| 5 |
Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2
|
Breen, C.
|
|
2013
|
108 |
1 |
p. 82-84
3 p.
|
artikel
|
| 6 |
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene
|
Honzik, Tomas
|
|
2013
|
108 |
1 |
p. 102-105
4 p.
|
artikel
|
| 7 |
Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation
|
Seminotti, Bianca
|
|
2013
|
108 |
1 |
p. 30-39
10 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2013
|
108 |
1 |
p. IFC-
1 p.
|
artikel
|
| 9 |
Effects of cyclodextrin in two patients with Niemann–Pick Type C disease
|
Matsuo, Muneaki
|
|
2013
|
108 |
1 |
p. 76-81
6 p.
|
artikel
|
| 10 |
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: A potential model for Tay Sachs disease
|
Sanders, Douglas N.
|
|
2013
|
108 |
1 |
p. 70-75
6 p.
|
artikel
|
| 11 |
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations
|
Lee, Beom Hee
|
|
2013
|
108 |
1 |
p. 18-24
7 p.
|
artikel
|
| 12 |
Impact of geographic access to care on compliance and metabolic control in phenylketonuria
|
Freehauf, Cynthia
|
|
2013
|
108 |
1 |
p. 13-17
5 p.
|
artikel
|
| 13 |
Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation
|
Nagao, Masayoshi
|
|
2013
|
108 |
1 |
p. 25-29
5 p.
|
artikel
|
| 14 |
Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase
|
Pierson, Tyler Mark
|
|
2013
|
108 |
1 |
p. 65-69
5 p.
|
artikel
|
| 15 |
Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity
|
Yap, Thai Leong
|
|
2013
|
108 |
1 |
p. 56-64
9 p.
|
artikel
|
| 16 |
Metallothionein 2a gene expression is increased in subcutaneous adipose tissue of type 2 diabetic patients
|
Haynes, Vanessa
|
|
2013
|
108 |
1 |
p. 90-94
5 p.
|
artikel
|
| 17 |
Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations
|
Siriwardena, Komudi
|
|
2013
|
108 |
1 |
p. 40-50
11 p.
|
artikel
|
| 18 |
Neonatal chitotriosidase activity is not predictive for Niemann–Pick disease type A/B: Implications for newborn screening for lysosomal storage disorders
|
Porta, Francesco
|
|
2013
|
108 |
1 |
p. 106-
1 p.
|
artikel
|
| 19 |
Sequencing from dried blood spots in infants with “false positive” newborn screen for MCAD deficiency
|
McCandless, Shawn E.
|
|
2013
|
108 |
1 |
p. 51-55
5 p.
|
artikel
|
| 20 |
Table of Contents
|
|
|
2013
|
108 |
1 |
p. iii-iv
nvt p.
|
artikel
|
| 21 |
Visual functions in phenylketonuria—evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses
|
Gramer, Gwendolyn
|
|
2013
|
108 |
1 |
p. 1-7
7 p.
|
artikel
|
Tijdschrift beschrijving