| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing
|
Kumar, Runjun D.
|
|
|
26 |
C |
p.
|
artikel
|
| 2 |
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
|
Hershkovitz, Tova
|
|
|
26 |
C |
p.
|
artikel
|
| 3 |
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
|
Kellom, Elizabeth
|
|
|
26 |
C |
p.
|
artikel
|
| 4 |
Continuation of pegvaliase treatment during pregnancy: A case report
|
Boyer, Monica
|
|
|
26 |
C |
p.
|
artikel
|
| 5 |
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
|
Lenherr, Nina
|
|
|
26 |
C |
p.
|
artikel
|
| 6 |
Emerging considerations on mitochondrial and cytosolic metabolic features in SDH-deficient cancer cells
|
Vamecq, Joseph
|
|
|
26 |
C |
p.
|
artikel
|
| 7 |
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort
|
Bérat, Claire-Marine
|
|
|
26 |
C |
p.
|
artikel
|
| 8 |
Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias
|
Kaftory, Ran
|
|
|
26 |
C |
p.
|
artikel
|
| 9 |
Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation
|
Al Absi, Hebah S.
|
|
|
26 |
C |
p.
|
artikel
|
| 10 |
Intra-operative kinetics of anti-HLA antibody in simultaneous liver-kidney transplantation
|
Kueht, M.
|
|
|
26 |
C |
p.
|
artikel
|
| 11 |
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
|
Ammer, Luise Sophie
|
|
|
26 |
C |
p.
|
artikel
|
| 12 |
Leigh syndrome associated with TRMU gene mutations
|
Sala-Coromina, Júlia
|
|
|
26 |
C |
p.
|
artikel
|
| 13 |
Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias
|
Kiykim, Ertugrul
|
|
|
26 |
C |
p.
|
artikel
|
| 14 |
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution
|
Torices, Leire
|
|
|
26 |
C |
p.
|
artikel
|
| 15 |
Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature
|
Miselli, Francesca
|
|
|
26 |
C |
p.
|
artikel
|
| 16 |
Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a
|
Iijima, Hiroyuki
|
|
|
26 |
C |
p.
|
artikel
|
| 17 |
Nutrient management in the intrapartum period in maternal maple syrup urine disease
|
Takano, Chika
|
|
|
26 |
C |
p.
|
artikel
|
| 18 |
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
|
de Fuenmayor-Fernández de la Hoz, Carlos Pablo
|
|
|
26 |
C |
p.
|
artikel
|
| 19 |
SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening
|
Vitturi, N.
|
|
|
26 |
C |
p.
|
artikel
|
| 20 |
SLC35A2-CDG: Novel variant and review
|
Quelhas, Dulce
|
|
|
26 |
C |
p.
|
artikel
|
| 21 |
Spinal cerebrotendinous xanthomatosis: A case report and literature review
|
Atallah, Isis
|
|
|
26 |
C |
p.
|
artikel
|
| 22 |
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation
|
Abe, Yu
|
|
|
26 |
C |
p.
|
artikel
|
| 23 |
Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players
|
Chauhan, Bharesh K.
|
|
|
26 |
C |
p.
|
artikel
|
| 24 |
Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
|
Natarajan, Archana
|
|
|
26 |
C |
p.
|
artikel
|
| 25 |
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy
|
Dutra-Clarke, Marina
|
|
|
26 |
C |
p.
|
artikel
|
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