| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aberrant DNA methylation of calcitonin receptor in Fabry patients treated with enzyme replacement therapy
|
Hübner, Anna
|
|
2015
|
5 |
C |
p. 1-2
|
artikel
|
| 2 |
Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response
|
Mazzola, Priscila Nicolao
|
|
2015
|
5 |
C |
p. 55-59
|
artikel
|
| 3 |
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization
|
Silva-Grecco, Roseane Lopes da
|
|
2015
|
5 |
C |
p. 98-102
|
artikel
|
| 4 |
A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey
|
Bacino, Carlos A.
|
|
2015
|
5 |
C |
p. 15-18
|
artikel
|
| 5 |
Analysis of six novel flavin-containing monooxygenase 3 (FMO3) gene variants found in a Japanese population suffering from trimethylaminuria
|
Shimizu, Makiko
|
|
2015
|
5 |
C |
p. 89-93
|
artikel
|
| 6 |
A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II
|
Warang, Prashant
|
|
2015
|
5 |
C |
p. 44-47
|
artikel
|
| 7 |
Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
|
Teefe, Enock
|
|
2015
|
5 |
C |
p. 107-109
|
artikel
|
| 8 |
Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry
|
Oestreich, Arin K.
|
|
2015
|
5 |
C |
p. 3-11
|
artikel
|
| 9 |
Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
|
Bali, Deeksha S.
|
|
2015
|
5 |
C |
p. 76-79
|
artikel
|
| 10 |
Cognitive functioning in mild hyperphenylalaninemia
|
de la Parra, Alicia
|
|
2015
|
5 |
C |
p. 72-75
|
artikel
|
| 11 |
Comments on ‘Newborn screening in southeastern Europe’ published in Molecular Genetics and Metabolism, 2014 Sept–Oct;113(1–2):42–45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam, V. Mulliqi Kotori, H. Maksic, O. Marginean, O. Margineanu, O. Milijanovic, F. Moldovanu, M. Muresan, S. Murko, M. Nanu, B. Repic Lampert, M. Samardzic, V. Sarnavka, A. Savov, M. Stojiljkovic, B. Suzic, R. Tincheva, H. Tahirovic, A. Toromanovic, N. Usurela, T. Battelino
|
Kocova, Mirjana
|
|
2015
|
5 |
C |
p. 110
|
artikel
|
| 12 |
CTNS mutations in publicly-available human cystinosis cell lines
|
Zykovich, Artem
|
|
2015
|
5 |
C |
p. 63-66
|
artikel
|
| 13 |
Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?
|
Rohde, Carmen
|
|
2015
|
5 |
C |
p. 36-41
|
artikel
|
| 14 |
Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment
|
Hendriksz, Christian J.
|
|
2015
|
5 |
C |
p. 103-106
|
artikel
|
| 15 |
LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
|
Meijer, I.A.
|
|
2015
|
5 |
C |
p. 85-88
|
artikel
|
| 16 |
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
|
Yamamoto, Takuma
|
|
2015
|
5 |
C |
p. 26-32
|
artikel
|
| 17 |
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance
|
Ardissone, Anna
|
|
2015
|
5 |
C |
p. 51-54
|
artikel
|
| 18 |
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family
|
Fu, Xiaona
|
|
2015
|
5 |
C |
p. 80-84
|
artikel
|
| 19 |
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children
|
Horovitz, Dafne D.G.
|
|
2015
|
5 |
C |
p. 19-25
|
artikel
|
| 20 |
Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up
|
Szymańska, Edyta
|
|
2015
|
5 |
C |
p. 33-35
|
artikel
|
| 21 |
Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6years of enzyme replacement therapy: Implications for early diagnosis and therapy
|
Sato, Yohei
|
|
2015
|
5 |
C |
p. 94-97
|
artikel
|
| 22 |
Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease
|
Mitja, Jevnikar
|
|
2015
|
5 |
C |
p. 67-71
|
artikel
|
| 23 |
The lactose and galactose content of milk fats and suitability for galactosaemia
|
Portnoi, P.A.
|
|
2015
|
5 |
C |
p. 42-43
|
artikel
|
| 24 |
Tyrosinemia type III in an asymptomatic girl
|
Szymanska, Edyta
|
|
2015
|
5 |
C |
p. 48-50
|
artikel
|
| 25 |
Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate
|
Mokhtarani, M.
|
|
2015
|
5 |
C |
p. 12-14
|
artikel
|
| 26 |
Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates
|
Whyte, Lauren S.
|
|
2015
|
5 |
C |
p. 60-62
|
artikel
|
Tijdschrift beschrijving