| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers
|
Ranganath, L.R.
|
|
|
27 |
C |
p.
|
artikel
|
| 2 |
Adult GAMT deficiency: A literature review and report of two siblings
|
Modi, Bhavi P.
|
|
|
27 |
C |
p.
|
artikel
|
| 3 |
Aldolase A deficiency: Report of new cases and literature review
|
Papadopoulos, C.
|
|
|
27 |
C |
p.
|
artikel
|
| 4 |
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder
|
Semenova, Natalia A.
|
|
|
27 |
C |
p.
|
artikel
|
| 5 |
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
|
Huang, Yue
|
|
|
27 |
C |
p.
|
artikel
|
| 6 |
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment
|
Wassenberg, Tessa
|
|
|
27 |
C |
p.
|
artikel
|
| 7 |
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database
|
Park, Kyung Sun
|
|
|
27 |
C |
p.
|
artikel
|
| 8 |
Classical homocystinuria, is it safe to exercise?
|
Tankeu, Aurel T.
|
|
|
27 |
C |
p.
|
artikel
|
| 9 |
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations
|
Ozkinay, F.
|
|
|
27 |
C |
p.
|
artikel
|
| 10 |
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients
|
Loos, Mariana Amina
|
|
|
27 |
C |
p.
|
artikel
|
| 11 |
Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia
|
Stergachis, Andrew B.
|
|
|
27 |
C |
p.
|
artikel
|
| 12 |
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
|
Lipiński, Patryk
|
|
|
27 |
C |
p.
|
artikel
|
| 13 |
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
|
Umaña-Calderón, Andrés
|
|
|
27 |
C |
p.
|
artikel
|
| 14 |
Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse
|
Diekman, Eugène F.
|
|
|
27 |
C |
p.
|
artikel
|
| 15 |
Evaluating psychosocial stressors in families of children with inborn errors of metabolism
|
Grant, Nathan
|
|
|
27 |
C |
p.
|
artikel
|
| 16 |
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases
|
Kubaski, Francyne
|
|
|
27 |
C |
p.
|
artikel
|
| 17 |
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis
|
Przybilla, Michael J.
|
|
|
27 |
C |
p.
|
artikel
|
| 18 |
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
|
Curelaru, Shiri
|
|
|
27 |
C |
p.
|
artikel
|
| 19 |
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data
|
Trefz, Friedrich
|
|
|
27 |
C |
p.
|
artikel
|
| 20 |
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
|
Guilder, Laura
|
|
|
27 |
C |
p.
|
artikel
|
| 21 |
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy
|
Blouin, Jean-Marc
|
|
|
27 |
C |
p.
|
artikel
|
| 22 |
Long term follow-up of the dietary intake in propionic acidemia
|
Mobarak, A.
|
|
|
27 |
C |
p.
|
artikel
|
| 23 |
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
|
Al-Qattan, Sarah
|
|
|
27 |
C |
p.
|
artikel
|
| 24 |
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
|
Gramer, Gwendolyn
|
|
|
27 |
C |
p.
|
artikel
|
| 25 |
Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid
|
Powers, Kelly T.
|
|
|
27 |
C |
p.
|
artikel
|
| 26 |
Molecular basis of ventricular arrhythmogenicity in a Pgc-1α deficient murine model
|
Saadeh, Khalil
|
|
|
27 |
C |
p.
|
artikel
|
| 27 |
New mutation in Fabry disease: c.448delG, first phenotypic description
|
Calabrese, Esteban
|
|
|
27 |
C |
p.
|
artikel
|
| 28 |
Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II
|
Yamamoto, Ryuji
|
|
|
27 |
C |
p.
|
artikel
|
| 29 |
Physical, cognitive, and social status of patients with urea cycle disorders in Japan
|
Kido, Jun
|
|
|
27 |
C |
p.
|
artikel
|
| 30 |
PKU and COVID19: How the pandemic changed metabolic control
|
Rovelli, Valentina
|
|
|
27 |
C |
p.
|
artikel
|
| 31 |
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant
|
Wongkittichote, Parith
|
|
|
27 |
C |
p.
|
artikel
|
| 32 |
Pregnancy in an adolescent with maple syrup urine disease: Case report
|
Abadingo, Michelle E.
|
|
|
27 |
C |
p.
|
artikel
|
| 33 |
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2
|
Morales, J. Andres
|
|
|
27 |
C |
p.
|
artikel
|
| 34 |
Real-world data assessment of safety of home-based and hospital/outpatient-based laronidase enzyme replacement therapy for mucopolysaccharidosis I
|
Wilson, Amanda
|
|
|
27 |
C |
p.
|
artikel
|
| 35 |
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”
|
Espitia Segura, O.M.
|
|
|
27 |
C |
p.
|
artikel
|
| 36 |
Reduced macular thickness and macular vessel density in early-treated adult patients with PKU
|
Serfozo, Csilla
|
|
|
27 |
C |
p.
|
artikel
|
| 37 |
Reduction of agalsidase beta infusion time in patients with fabry disease: A case series report and suggested protocol
|
Sánchez-Purificación, Aquilino
|
|
|
27 |
C |
p.
|
artikel
|
| 38 |
Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.
|
Krämer, Johannes
|
|
|
27 |
C |
p.
|
artikel
|
| 39 |
Retraction notice to “Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2year prospective study” [Molecular Genetics and Metabolism Reports 22 (2020) 100573].
|
Krämer, Johannes
|
|
|
27 |
C |
p.
|
artikel
|
| 40 |
Serendipitous discovery of phenylketonuria in Iraq – How to identify and treat?
|
Persike de Oliveira, Daniele Suzete
|
|
|
27 |
C |
p.
|
artikel
|
| 41 |
Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C
|
Höller, A.
|
|
|
27 |
C |
p.
|
artikel
|
| 42 |
Successful pregnancy in a woman with glycogen storage disease type 6
|
Grünert, Sarah Catharina
|
|
|
27 |
C |
p.
|
artikel
|
| 43 |
The beta-glucuronidase intracisternal A particle insertion model results in similar overall MPSVII phenotype as the single base deletion model when on the same C57BL/6J mouse background
|
Devanney, Sean C.
|
|
|
27 |
C |
p.
|
artikel
|
| 44 |
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
|
Lee, Chung-Lin
|
|
|
27 |
C |
p.
|
artikel
|
| 45 |
The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland
|
Savolainen, Markku J.
|
|
|
27 |
C |
p.
|
artikel
|
| 46 |
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency
|
Bo, Ryosuke
|
|
|
27 |
C |
p.
|
artikel
|
| 47 |
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease
|
Stiles, Ashlee R.
|
|
|
27 |
C |
p.
|
artikel
|
| 48 |
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
|
Bik-Multanowski, Miroslaw
|
|
|
27 |
C |
p.
|
artikel
|
| 49 |
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report
|
Cava, Francesco
|
|
|
27 |
C |
p.
|
artikel
|
| 50 |
Treatment experience in two adults with creatinfe transporter deficiency
|
Schjelderup, Jack
|
|
|
27 |
C |
p.
|
artikel
|
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