| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity
|
Kawabata, Kazuo
|
|
|
32 |
C |
p.
|
artikel
|
| 2 |
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants
|
Mousa, Jehan
|
|
|
32 |
C |
p.
|
artikel
|
| 3 |
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges
|
Blümlein, Ulrike
|
|
|
32 |
C |
p.
|
artikel
|
| 4 |
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation
|
Curelaru, Shiri
|
|
|
32 |
C |
p.
|
artikel
|
| 5 |
A new pathogenic POLG variant
|
Nicholas Russo, S.
|
|
|
32 |
C |
p.
|
artikel
|
| 6 |
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
|
Fumagalli, Monica
|
|
|
32 |
C |
p.
|
artikel
|
| 7 |
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era
|
Becsei, Dóra
|
|
|
32 |
C |
p.
|
artikel
|
| 8 |
Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation
|
Maharaj, Mandat
|
|
|
32 |
C |
p.
|
artikel
|
| 9 |
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry
|
Civallero, Gabriel
|
|
|
32 |
C |
p.
|
artikel
|
| 10 |
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review
|
Sreekantam, Srividya
|
|
|
32 |
C |
p.
|
artikel
|
| 11 |
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants
|
Tsygankova, Polina
|
|
|
32 |
C |
p.
|
artikel
|
| 12 |
Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression
|
Ridova, Nevenka
|
|
|
32 |
C |
p.
|
artikel
|
| 13 |
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
|
Chen, Hui-An
|
|
|
32 |
C |
p.
|
artikel
|
| 14 |
Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa
|
Kumru Akin, Burcu
|
|
|
32 |
C |
p.
|
artikel
|
| 15 |
Lactulose: A treatment for hyperammonemia in a lysinuric protein–intolerant patient with dynamic blood amino acid concentrations
|
Kakisaka, Keisuke
|
|
|
32 |
C |
p.
|
artikel
|
| 16 |
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model
|
Diaz-Trelles, Ramon
|
|
|
32 |
C |
p.
|
artikel
|
| 17 |
Maple syrup urine disease decompensation misdiagnosed as a psychotic event
|
Higashimoto, Tomoyasu
|
|
|
32 |
C |
p.
|
artikel
|
| 18 |
Newborn screening for spinal muscular atrophy in Japan: One year of experience
|
Sawada, Takaaki
|
|
|
32 |
C |
p.
|
artikel
|
| 19 |
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database
|
Lim, Chelsey Chaehee
|
|
|
32 |
C |
p.
|
artikel
|
| 20 |
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses
|
Vucko, Erika R.
|
|
|
32 |
C |
p.
|
artikel
|
| 21 |
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey
|
Inagaki, Natsuko
|
|
|
32 |
C |
p.
|
artikel
|
| 22 |
The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine
|
Fishchuk, Liliya
|
|
|
32 |
C |
p.
|
artikel
|
| 23 |
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency
|
Huang, Yue
|
|
|
32 |
C |
p.
|
artikel
|
| 24 |
Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers
|
Kruger, Eliza
|
|
|
32 |
C |
p.
|
artikel
|
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