| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach
|
Aintablian, H.K.
|
|
2017
|
10 |
C |
p. 38-44
|
artikel
|
| 2 |
A new variant in PHKA2 is associated with glycogen storage disease type IXa
|
Rodríguez-Jiménez, Carmen
|
|
2017
|
10 |
C |
p. 52-55
|
artikel
|
| 3 |
Authors' reply — Clozapine for mitochondrial psychosis
|
Demily, Caroline
|
|
2017
|
10 |
C |
p. 101
|
artikel
|
| 4 |
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
|
Katz, Sharon
|
|
2017
|
10 |
C |
p. 5-7
|
artikel
|
| 5 |
Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals
|
Pérez-López, J.
|
|
2017
|
10 |
C |
p. 92-95
|
artikel
|
| 6 |
Clozapine for mitochondrial psychosis
|
Finsterer, Josef
|
|
2017
|
10 |
C |
p. 50
|
artikel
|
| 7 |
Comparative genomic analysis of eutherian kallikrein genes
|
Premzl, Marko
|
|
2017
|
10 |
C |
p. 96-99
|
artikel
|
| 8 |
Comparing expression and activity of PCSK9 in SPRET/EiJ and C57BL/6J mouse strains shows lack of correlation with plasma cholesterol
|
Sirois, Francine
|
|
2017
|
10 |
C |
p. 11-17
|
artikel
|
| 9 |
Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis
|
Raval, Donna B.
|
|
2017
|
10 |
C |
p. 8-10
|
artikel
|
| 10 |
Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome
|
Nakamura, Sachie
|
|
2017
|
10 |
C |
p. 67-74
|
artikel
|
| 11 |
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I
|
Giugliani, Roberto
|
|
2017
|
10 |
C |
p. 61-66
|
artikel
|
| 12 |
7-ketocholesterol induces apoptosis of MC3T3-E1 cells associated with reactive oxygen species generation, endoplasmic reticulum stress and caspase-3/7 dependent pathway
|
Sato, Yuta
|
|
2017
|
10 |
C |
p. 56-60
|
artikel
|
| 13 |
Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology
|
Gass, J.
|
|
2017
|
10 |
C |
p. 51
|
artikel
|
| 14 |
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia
|
Santra, S.
|
|
2017
|
10 |
C |
p. 28-30
|
artikel
|
| 15 |
Low blood heteroplasmy-rate may cause late-onset MELAS
|
Finsterer, Josef
|
|
2017
|
10 |
C |
p. 100
|
artikel
|
| 16 |
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation
|
Demily, Caroline
|
|
2017
|
10 |
C |
p. 20-22
|
artikel
|
| 17 |
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
|
Mütze, Ulrike
|
|
2017
|
10 |
C |
p. 1-4
|
artikel
|
| 18 |
ND2 mutation with minimal coenzyme-Q responsive manifestations
|
Finsterer, Josef
|
|
2017
|
10 |
C |
p. 83
|
artikel
|
| 19 |
Onset of MELAS due to the m.3243A>G mutation is early if the large phenotypic variability is considered
|
Finsterer, Josef
|
|
2017
|
10 |
C |
p. 23
|
artikel
|
| 20 |
Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation
|
Finsterer, Josef
|
|
2017
|
10 |
C |
p. 31-32
|
artikel
|
| 21 |
Phenotypic heterogeneity of MELAS
|
Finsterer, Josef
|
|
2017
|
10 |
C |
p. 18-19
|
artikel
|
| 22 |
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II
|
Polgreen, Lynda E.
|
|
2017
|
10 |
C |
p. 75-80
|
artikel
|
| 23 |
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data
|
Ferreira, Carlos R.
|
|
2017
|
10 |
C |
p. 81-82
|
artikel
|
| 24 |
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
|
Zanolini, Alice
|
|
2017
|
10 |
C |
p. 24-27
|
artikel
|
| 25 |
RNA sequencing of archived neonatal dried blood spots
|
Bybjerg-Grauholm, Jonas
|
|
2017
|
10 |
C |
p. 33-37
|
artikel
|
| 26 |
Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis
|
Tise, Christina G.
|
|
2017
|
10 |
C |
p. 84-91
|
artikel
|
| 27 |
Utility of the succinate:fumarate ratio for assessing SDH dysfunction in different tumor types
|
Kim, Edward
|
|
2017
|
10 |
C |
p. 45-49
|
artikel
|
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