| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Assessment of the phenotype genotype variability and correlation in m.3243A>G mutation carriers requires prospective studies
|
Finsterer, Josef
|
|
2016
|
8 |
C |
p. 33-
1 p.
|
artikel
|
| 2 |
Atypical presentation of mucopolysaccharidosis type IVA
|
Rush, Eric T.
|
|
2016
|
8 |
C |
p. 8-12
5 p.
|
artikel
|
| 3 |
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A>T (p.Ile560Phe)
|
Finsterer, Josef
|
|
2016
|
8 |
C |
p. 1-3
3 p.
|
artikel
|
| 4 |
Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives
|
Shchelochkov, Oleg A.
|
|
2016
|
8 |
C |
p. 43-47
5 p.
|
artikel
|
| 5 |
Bone mineral density in mucopolysaccharidosis IVB
|
Kubaski, Francyne
|
|
2016
|
8 |
C |
p. 80-84
5 p.
|
artikel
|
| 6 |
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
|
Burlina, Alberto
|
|
2016
|
8 |
C |
p. 34-40
7 p.
|
artikel
|
| 7 |
Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
|
Ibrahim, Jennifer
|
|
2016
|
8 |
C |
p. 17-19
3 p.
|
artikel
|
| 8 |
Creatine transporter deficiency: Novel mutations and functional studies
|
Ardon, O.
|
|
2016
|
8 |
C |
p. 20-23
4 p.
|
artikel
|
| 9 |
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
|
Donti, Taraka R.
|
|
2016
|
8 |
C |
p. 61-66
6 p.
|
artikel
|
| 10 |
Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I
|
Ou, Li
|
|
2016
|
8 |
C |
p. 87-93
7 p.
|
artikel
|
| 11 |
Enhancement of human plasma glucosylceramide assay sensitivity using delipidized plasma
|
Zheng, Kefei
|
|
2016
|
8 |
C |
p. 77-79
3 p.
|
artikel
|
| 12 |
First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7
|
Soheilipour, Fahimeh
|
|
2016
|
8 |
C |
p. 13-16
4 p.
|
artikel
|
| 13 |
Hypothyroidism in late-onset Pompe disease
|
Schneider, Joseph
|
|
2016
|
8 |
C |
p. 24-27
4 p.
|
artikel
|
| 14 |
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
|
Kim, Joonil
|
|
2016
|
8 |
C |
p. 74-76
3 p.
|
artikel
|
| 15 |
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra
|
Al Kaabi, Eiman H.
|
|
2016
|
8 |
C |
p. 94-98
5 p.
|
artikel
|
| 16 |
Nutritional status of patients with phenylketonuria in Japan
|
Okano, Yoshiyuki
|
|
2016
|
8 |
C |
p. 103-110
8 p.
|
artikel
|
| 17 |
Pregnancy in patients with mucopolysaccharidosis: a case series
|
Stewart, Fiona J.
|
|
2016
|
8 |
C |
p. 111-115
5 p.
|
artikel
|
| 18 |
Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening
|
Alonso-Fernández, José Ramón
|
|
2016
|
8 |
C |
p. 99-102
4 p.
|
artikel
|
| 19 |
Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
|
Chuquilin, Miguel
|
|
2016
|
8 |
C |
p. 28-32
5 p.
|
artikel
|
| 20 |
Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T>C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia
|
Kelland, E.
|
|
2016
|
8 |
C |
p. 41-42
2 p.
|
artikel
|
| 21 |
Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy?
|
Chuquilin, Miguel
|
|
2016
|
8 |
C |
p. 85-86
2 p.
|
artikel
|
| 22 |
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community
|
Scott Schwoerer, Jessica
|
|
2016
|
8 |
C |
p. 4-7
4 p.
|
artikel
|
| 23 |
The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences
|
Bruni, Stefano
|
|
2016
|
8 |
C |
p. 67-73
7 p.
|
artikel
|
| 24 |
The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa
|
Baek, Rena C.
|
|
2016
|
8 |
C |
p. 48-50
3 p.
|
artikel
|
| 25 |
Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia
|
Darvish-Damavandi, Mahnaz
|
|
2016
|
8 |
C |
p. 51-60
10 p.
|
artikel
|
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