| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
|
Olivati, Caroline
|
|
|
31 |
C |
p.
|
artikel
|
| 2 |
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy
|
Kaczmarczyk, Aneta
|
|
|
31 |
C |
p.
|
artikel
|
| 3 |
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature
|
Gragnaniello, Vincenza
|
|
|
31 |
C |
p.
|
artikel
|
| 4 |
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
|
Wang, Ying
|
|
|
31 |
C |
p.
|
artikel
|
| 5 |
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency
|
Dessein, Anne-Frédérique
|
|
|
31 |
C |
p.
|
artikel
|
| 6 |
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
|
El-Gharbawy, Areeg
|
|
|
31 |
C |
p.
|
artikel
|
| 7 |
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada
|
Buckingham, Allison
|
|
|
31 |
C |
p.
|
artikel
|
| 8 |
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
|
Bösch, Florin
|
|
|
31 |
C |
p.
|
artikel
|
| 9 |
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA
|
Lee, Seung Hoon
|
|
|
31 |
C |
p.
|
artikel
|
| 10 |
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
|
Tsai, Anne Chun-Hui
|
|
|
31 |
C |
p.
|
artikel
|
| 11 |
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy
|
Maldonado, Rocio
|
|
|
31 |
C |
p.
|
artikel
|
| 12 |
Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement
|
Cunningham, G.
|
|
|
31 |
C |
p.
|
artikel
|
| 13 |
Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia
|
Turki, Abrar
|
|
|
31 |
C |
p.
|
artikel
|
| 14 |
Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria
|
Raghu, Vikram K.
|
|
|
31 |
C |
p.
|
artikel
|
| 15 |
Early clinical signs and treatment of Menkes disease
|
Fujisawa, Chie
|
|
|
31 |
C |
p.
|
artikel
|
| 16 |
Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells
|
Hossain, Mohammad Arif
|
|
|
31 |
C |
p.
|
artikel
|
| 17 |
Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11
|
Kaneski, Christine R.
|
|
|
31 |
C |
p.
|
artikel
|
| 18 |
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants
|
Al Masseri, Zainab
|
|
|
31 |
C |
p.
|
artikel
|
| 19 |
Hearing loss in fabry disease: A 16 year follow-up study of the Danish nationwide cohort
|
Yazdanfard, Puriya Daniel Würtz
|
|
|
31 |
C |
p.
|
artikel
|
| 20 |
Increased atherosclerosis in a mouse model of glycogen storage disease type 1a
|
La Rose, Anouk M.
|
|
|
31 |
C |
p.
|
artikel
|
| 21 |
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam
|
Huong, Nguyen Thi Mai
|
|
|
31 |
C |
p.
|
artikel
|
| 22 |
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
|
Veenvliet, Annemarijne R.J.
|
|
|
31 |
C |
p.
|
artikel
|
| 23 |
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia
|
Alves Júnior, Ailton C.
|
|
|
31 |
C |
p.
|
artikel
|
| 24 |
Newborn screening for Gaucher disease in Japan
|
Sawada, Takaaki
|
|
|
31 |
C |
p.
|
artikel
|
| 25 |
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
|
Tseng, L.A.
|
|
|
31 |
C |
p.
|
artikel
|
| 26 |
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype
|
Elsaid, Hassan O.A.
|
|
|
31 |
C |
p.
|
artikel
|
| 27 |
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
|
Sohn, Young Bae
|
|
|
31 |
C |
p.
|
artikel
|
| 28 |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
Lee, Ni-Chung
|
|
|
31 |
C |
p.
|
artikel
|
| 29 |
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates
|
Regier, Debra S.
|
|
|
31 |
C |
p.
|
artikel
|
| 30 |
The role of native T1 values on the evaluation of cardiac manifestation in Japanese Fabry disease patients
|
Anan, Ikuko
|
|
|
31 |
C |
p.
|
artikel
|
| 31 |
Translation of quality of life scale for pediatric patients with Fabry disease in Japan
|
Koto, Yuta
|
|
|
31 |
C |
p.
|
artikel
|
| 32 |
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study
|
Wanner, Christoph
|
|
|
31 |
C |
p.
|
artikel
|
| 33 |
Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria
|
Yamada, Natsuo
|
|
|
31 |
C |
p.
|
artikel
|
| 34 |
Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia
|
Hannah, William B.
|
|
|
31 |
C |
p.
|
artikel
|
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