| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences
|
Sri Bhashyam, Sumitra
|
|
|
21 |
C |
p.
|
artikel
|
| 2 |
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
|
Romero, Jacqueline A.
|
|
|
21 |
C |
p.
|
artikel
|
| 3 |
A case of motor neuron involvement in Gaucher disease
|
Pozzilli, V.
|
|
|
21 |
C |
p.
|
artikel
|
| 4 |
An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States
|
Conner, Therese
|
|
|
21 |
C |
p.
|
artikel
|
| 5 |
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
|
Fragaki, Konstantina
|
|
|
21 |
C |
p.
|
artikel
|
| 6 |
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
|
Faoucher, Marie
|
|
|
21 |
C |
p.
|
artikel
|
| 7 |
Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy
|
Stevelink, Remi
|
|
|
21 |
C |
p.
|
artikel
|
| 8 |
Bi-directional Mendelian randomization of epithelial ovarian cancer and schizophrenia and uni-directional Mendelian randomization of schizophrenia on circulating 1- or 2-glycerophosphocholine metabolites
|
Adams, Charleen D.
|
|
|
21 |
C |
p.
|
artikel
|
| 9 |
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
|
Mastrangelo, Mario
|
|
|
21 |
C |
p.
|
artikel
|
| 10 |
Case reports of metabolic disorders from Nepal
|
Sharma Pandey, Arti
|
|
|
21 |
C |
p.
|
artikel
|
| 11 |
Characterization of glycan substrates accumulating in GM1 Gangliosidosis
|
Lawrence, Roger
|
|
|
21 |
C |
p.
|
artikel
|
| 12 |
Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico
|
Campos-Garcia, Felix-Julian
|
|
|
21 |
C |
p.
|
artikel
|
| 13 |
Clinical and genetic aspects of mild hypophosphatasia in Japanese patients
|
Yokoi, Katsuyuki
|
|
|
21 |
C |
p.
|
artikel
|
| 14 |
Comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”
|
Favresse, Julien
|
|
|
21 |
C |
p.
|
artikel
|
| 15 |
Comment: Why are females with Fabry disease affected?
|
Beck, Michael
|
|
|
21 |
C |
p.
|
artikel
|
| 16 |
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
|
Cullufi, P.
|
|
|
21 |
C |
p.
|
artikel
|
| 17 |
Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy
|
Barcia, Giulia
|
|
|
21 |
C |
p.
|
artikel
|
| 18 |
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients
|
Kritzer, Amy
|
|
|
21 |
C |
p.
|
artikel
|
| 19 |
Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders
|
Yamada, Mamiko
|
|
|
21 |
C |
p.
|
artikel
|
| 20 |
Expanding the clinical spectrum of MTTF mutations
|
Barcia, Giulia
|
|
|
21 |
C |
p.
|
artikel
|
| 21 |
Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers
|
Smith, Neil
|
|
|
21 |
C |
p.
|
artikel
|
| 22 |
First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child
|
Nyuzuki, Hiromi
|
|
|
21 |
C |
p.
|
artikel
|
| 23 |
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking
|
Piccolo, Pasquale
|
|
|
21 |
C |
p.
|
artikel
|
| 24 |
Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis
|
Latour, Yvonne L.
|
|
|
21 |
C |
p.
|
artikel
|
| 25 |
Hydrophobic sand is a viable method of urine collection from the rat for extracellular vesicle biomarker analysis
|
Hoffman, Jessica F.
|
|
|
21 |
C |
p.
|
artikel
|
| 26 |
Hypermethioninemia in Campania: Results from 10 years of newborn screening
|
Villani, Guglielmo R.D.
|
|
|
21 |
C |
p.
|
artikel
|
| 27 |
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency
|
Ali, Ernie Zuraida
|
|
|
21 |
C |
p.
|
artikel
|
| 28 |
Infantile onset Pompe disease presenting with non-immune hydrops fetalis
|
Lee, Kristen
|
|
|
21 |
C |
p.
|
artikel
|
| 29 |
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice
|
Gustavsson, Susanne
|
|
|
21 |
C |
p.
|
artikel
|
| 30 |
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
|
Hannah, William B.
|
|
|
21 |
C |
p.
|
artikel
|
| 31 |
Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF
|
Barcia, Giulia
|
|
|
21 |
C |
p.
|
artikel
|
| 32 |
Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF
|
Finsterer, Josef
|
|
|
21 |
C |
p.
|
artikel
|
| 33 |
MLASA1 is a poly-phenic but not a di-phenic condition
|
Finsterer, Josef
|
|
|
21 |
C |
p.
|
artikel
|
| 34 |
Molecular based newborn screening in Germany: Follow-up for cystinosis
|
Hohenfellner, Katharina
|
|
|
21 |
C |
p.
|
artikel
|
| 35 |
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up
|
Woods, Jeremy
|
|
|
21 |
C |
p.
|
artikel
|
| 36 |
Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant
|
Guo, Juyuan
|
|
|
21 |
C |
p.
|
artikel
|
| 37 |
Peculiarities of the m.3243A>G variant in MT-TL1 leave medicine unprecise
|
Finsterer, Josef
|
|
|
21 |
C |
p.
|
artikel
|
| 38 |
Prescribing issues experienced by people living with phenylketonuria in the UK
|
Ford, Suzanne
|
|
|
21 |
C |
p.
|
artikel
|
| 39 |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
|
d'Avila Paskulin, Livia
|
|
|
21 |
C |
p.
|
artikel
|
| 40 |
Response: Late-onset Pompe disease manifests in the brain
|
Schneider, Ilka
|
|
|
21 |
C |
p.
|
artikel
|
| 41 |
Response to comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”
|
Wolf, Barry
|
|
|
21 |
C |
p.
|
artikel
|
| 42 |
Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers
|
Yamada, Kenji
|
|
|
21 |
C |
p.
|
artikel
|
| 43 |
The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation
|
Mazzarino, Randall C.
|
|
|
21 |
C |
p.
|
artikel
|
| 44 |
The financial and time burden associated with phenylketonuria treatment in the United States
|
Rose, Angela M.
|
|
|
21 |
C |
p.
|
artikel
|
| 45 |
Transition of patients with mucopolysaccharidosis from paediatric to adult care
|
Lampe, C.
|
|
|
21 |
C |
p.
|
artikel
|
| 46 |
Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study
|
Hijazi, Ghada
|
|
|
21 |
C |
p.
|
artikel
|
| 47 |
Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
|
Hannah-Shmouni, Fady
|
|
|
21 |
C |
p.
|
artikel
|
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