| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
|
Chien, Yin-Hsiu
|
|
2017
|
11 |
C |
p. 31-35
5 p.
|
artikel
|
| 2 |
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
|
Yamada, Kenji
|
|
2017
|
11 |
C |
p. 59-61
3 p.
|
artikel
|
| 3 |
A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency
|
Ikeda, Naohiro
|
|
2017
|
11 |
C |
p. 69-71
3 p.
|
artikel
|
| 4 |
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene
|
Martins, Carla
|
|
2017
|
11 |
C |
p. 24-29
6 p.
|
artikel
|
| 5 |
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
|
Bodamer, Olaf
|
|
2017
|
11 |
C |
p. 62-64
3 p.
|
artikel
|
| 6 |
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?
|
Politei, J.
|
|
2017
|
11 |
C |
p. 8-11
4 p.
|
artikel
|
| 7 |
Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84]
|
Senanayake, Danika Nadeen
|
|
2017
|
11 |
C |
p. 95-
1 p.
|
artikel
|
| 8 |
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
|
Miyamoto, Yuki
|
|
2017
|
11 |
C |
p. 6-7
2 p.
|
artikel
|
| 9 |
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina
|
Cabrera, Gustavo
|
|
2017
|
11 |
C |
p. 65-68
4 p.
|
artikel
|
| 10 |
Evaluation of whole genome amplified DNA to decrease material expenditure and increase quality
|
Bækvad-Hansen, Marie
|
|
2017
|
11 |
C |
p. 36-45
10 p.
|
artikel
|
| 11 |
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
|
Thurberg, Beth L.
|
|
2017
|
11 |
C |
p. 75-80
6 p.
|
artikel
|
| 12 |
Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study
|
Chinen, Yasutsugu
|
|
2017
|
11 |
C |
p. 2-5
4 p.
|
artikel
|
| 13 |
Letter to the Editors: Concerning “Divergent clinical outcomes of alphaglucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state” by Takashi M et al.
|
Ortolano, Rita
|
|
2017
|
11 |
C |
p. 1-
1 p.
|
artikel
|
| 14 |
Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet
|
García, María Ignacia
|
|
2017
|
11 |
C |
p. 12-16
5 p.
|
artikel
|
| 15 |
Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs
|
Millington, David S.
|
|
2017
|
11 |
C |
p. 72-73
2 p.
|
artikel
|
| 16 |
Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G>A
|
Finsterer, Josef
|
|
2017
|
11 |
C |
p. 74-
1 p.
|
artikel
|
| 17 |
Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing
|
Ludwig, Nataniel Floriano
|
|
2017
|
11 |
C |
p. 92-93
2 p.
|
artikel
|
| 18 |
Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels
|
Donida, Bruna
|
|
2017
|
11 |
C |
p. 46-53
8 p.
|
artikel
|
| 19 |
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders
|
Klouwer, Femke C.C.
|
|
2017
|
11 |
C |
p. 94-
1 p.
|
artikel
|
| 20 |
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids
|
Wernli, C.
|
|
2017
|
11 |
C |
p. 81-89
9 p.
|
artikel
|
| 21 |
The clinical heterogeneity of late-onset MELAS
|
Atwal, H.K.
|
|
2017
|
11 |
C |
p. 30-
1 p.
|
artikel
|
| 22 |
Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation
|
García, María Ignacia
|
|
2017
|
11 |
C |
p. 54-58
5 p.
|
artikel
|
| 23 |
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease
|
Imtiaz, Faiqa
|
|
2017
|
11 |
C |
p. 17-23
7 p.
|
artikel
|
| 24 |
Why does Leigh syndrome respond to immunotherapy?
|
Finsterer, Josef
|
|
2017
|
11 |
C |
p. 90-91
2 p.
|
artikel
|
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