| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials
|
Burton, Barbara K.
|
|
|
29 |
C |
p.
|
artikel
|
| 2 |
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis
|
Hannah, William B.
|
|
|
29 |
C |
p.
|
artikel
|
| 3 |
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
|
Alksere, Baiba
|
|
|
29 |
C |
p.
|
artikel
|
| 4 |
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
|
Hijazi, Ghada
|
|
|
29 |
C |
p.
|
artikel
|
| 5 |
Chitotriosidase as a biomarker for gangliosidoses
|
Kim, Sarah
|
|
|
29 |
C |
p.
|
artikel
|
| 6 |
Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease
|
Shiga, Tomoko
|
|
|
29 |
C |
p.
|
artikel
|
| 7 |
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice
|
Vagany, Viktoria
|
|
|
29 |
C |
p.
|
artikel
|
| 8 |
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
|
Chen, Wei-Yu
|
|
|
29 |
C |
p.
|
artikel
|
| 9 |
Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]
|
Bichet, Daniel G.
|
|
|
29 |
C |
p.
|
artikel
|
| 10 |
Creatine metabolism in patients with urea cycle disorders
|
Ingoglia, Filippo
|
|
|
29 |
C |
p.
|
artikel
|
| 11 |
Current status of surviving patients with arginase 1 deficiency in Japan
|
Kido, Jun
|
|
|
29 |
C |
p.
|
artikel
|
| 12 |
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
|
Mathis, Déborah
|
|
|
29 |
C |
p.
|
artikel
|
| 13 |
Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects
|
Timmer, C.
|
|
|
29 |
C |
p.
|
artikel
|
| 14 |
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis
|
Wesół-Kucharska, Dorota
|
|
|
29 |
C |
p.
|
artikel
|
| 15 |
Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
|
Hamed, Alaa
|
|
|
29 |
C |
p.
|
artikel
|
| 16 |
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy
|
Sechi, Annalisa
|
|
|
29 |
C |
p.
|
artikel
|
| 17 |
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells
|
Lehmann, Rebecca J.
|
|
|
29 |
C |
p.
|
artikel
|
| 18 |
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease
|
Kleytman, Nathaniel
|
|
|
29 |
C |
p.
|
artikel
|
| 19 |
Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders
|
Nakajima, Yoko
|
|
|
29 |
C |
p.
|
artikel
|
| 20 |
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
|
Numata-Uematsu, Yurika
|
|
|
29 |
C |
p.
|
artikel
|
| 21 |
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
|
Drelichman, Guillermo I.
|
|
|
29 |
C |
p.
|
artikel
|
| 22 |
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs
|
Tate, Nicole M.
|
|
|
29 |
C |
p.
|
artikel
|
| 23 |
Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis
|
Sakrani, Nida Fatima
|
|
|
29 |
C |
p.
|
artikel
|
| 24 |
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
|
Oppelaar, Jetta J.
|
|
|
29 |
C |
p.
|
artikel
|
| 25 |
Prevalence of cerebral small vessel disease in a Fabry disease cohort
|
Tapia, Daisy
|
|
|
29 |
C |
p.
|
artikel
|
| 26 |
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary
|
Becsei, Dóra
|
|
|
29 |
C |
p.
|
artikel
|
| 27 |
Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study
|
Tomita, Kazuyoshi
|
|
|
29 |
C |
p.
|
artikel
|
| 28 |
Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease
|
Mahoney, Ryan
|
|
|
29 |
C |
p.
|
artikel
|
| 29 |
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
|
Delanne, Julian
|
|
|
29 |
C |
p.
|
artikel
|
| 30 |
The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study
|
Dimitrova, Nevena
|
|
|
29 |
C |
p.
|
artikel
|
| 31 |
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
|
Alfarsi, Anar
|
|
|
29 |
C |
p.
|
artikel
|
| 32 |
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb
|
Resaz, Roberta
|
|
|
29 |
C |
p.
|
artikel
|
| 33 |
Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency
|
Laemmle, Alexander
|
|
|
29 |
C |
p.
|
artikel
|
| 34 |
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier
|
Klaassen, K.
|
|
|
29 |
C |
p.
|
artikel
|
| 35 |
Valine metabolites analysis in ECHS1 deficiency
|
Kuwajima, Mari
|
|
|
29 |
C |
p.
|
artikel
|
Tijdschrift beschrijving