| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system
|
Wada, Yoichi
|
|
|
35 |
C |
p.
|
artikel
|
| 2 |
An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy
|
Gómez, Jessica
|
|
|
35 |
C |
p.
|
artikel
|
| 3 |
A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer
|
Cuenca, Dalia
|
|
|
35 |
C |
p.
|
artikel
|
| 4 |
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family
|
Suzuki-Ajihara, Sayaka
|
|
|
35 |
C |
p.
|
artikel
|
| 5 |
BALB.NCT-Cpox nct is a unique mouse model of hereditary coproporphyria
|
Kang, Xiaojing
|
|
|
35 |
C |
p.
|
artikel
|
| 6 |
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes
|
Chen, Yi-Hua
|
|
|
35 |
C |
p.
|
artikel
|
| 7 |
Cerebral folate deficiency: A report of two affected siblings
|
Almahmoud, Rabah
|
|
|
35 |
C |
p.
|
artikel
|
| 8 |
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
|
González-Moreno, Luis
|
|
|
35 |
C |
p.
|
artikel
|
| 9 |
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report
|
Naganuma, Tsukasa
|
|
|
35 |
C |
p.
|
artikel
|
| 10 |
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth
|
Sawada, Takaaki
|
|
|
35 |
C |
p.
|
artikel
|
| 11 |
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment
|
Thuesen, Anne Cathrine Baun
|
|
|
35 |
C |
p.
|
artikel
|
| 12 |
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
|
Rovira-Remisa, M. Mar
|
|
|
35 |
C |
p.
|
artikel
|
| 13 |
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
|
Ogawa, Eri
|
|
|
35 |
C |
p.
|
artikel
|
| 14 |
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
|
Murko, Simona
|
|
|
35 |
C |
p.
|
artikel
|
| 15 |
Medication adherence in Fabry patients treated with migalastat: Real world experience
|
Riccio, Eleonora
|
|
|
35 |
C |
p.
|
artikel
|
| 16 |
Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III
|
Hong, Xinying
|
|
|
35 |
C |
p.
|
artikel
|
| 17 |
The patients` perspective on home-based infusion: A longitudinal observational study in the German healthcare setting for patients with lysosomal storage disorders treated with enzyme replacement therapy
|
Heinrich, Ria
|
|
|
35 |
C |
p.
|
artikel
|
| 18 |
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency
|
Yeganeh, Mehdi
|
|
|
35 |
C |
p.
|
artikel
|
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