| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
|
Lenzini, L.
|
|
|
30 |
C |
p.
|
artikel
|
| 2 |
Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria
|
Ranganath, L.R.
|
|
|
30 |
C |
p.
|
artikel
|
| 3 |
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
|
Sikonja, Jaka
|
|
|
30 |
C |
p.
|
artikel
|
| 4 |
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis
|
Baronio, Federico
|
|
|
30 |
C |
p.
|
artikel
|
| 5 |
Expression signature of the Leigh syndrome French-Canadian type
|
Bchetnia, Mbarka
|
|
|
30 |
C |
p.
|
artikel
|
| 6 |
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?
|
de Serpa Brandão, Rafael Melo Santos
|
|
|
30 |
C |
p.
|
artikel
|
| 7 |
Hematopoietic cell transplantation for sialidosis type I
|
Gupta, Ashish O.
|
|
|
30 |
C |
p.
|
artikel
|
| 8 |
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
|
Baumann, Katrin
|
|
|
30 |
C |
p.
|
artikel
|
| 9 |
Long-term outcome of patients with alpha-mannosidosis – A single center study
|
Lipiński, Patryk
|
|
|
30 |
C |
p.
|
artikel
|
| 10 |
LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations
|
Kanderi, Navya
|
|
|
30 |
C |
p.
|
artikel
|
| 11 |
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation
|
Paisiou, A.
|
|
|
30 |
C |
p.
|
artikel
|
| 12 |
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
|
Welford, Richard W.D.
|
|
|
30 |
C |
p.
|
artikel
|
| 13 |
Response to Letter to the Editor: Secondary ganglioside GM2 accumulation in mucopolysaccharidoses
|
Derrick-Roberts, Ainslie L.K.
|
|
|
30 |
C |
p.
|
artikel
|
| 14 |
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic
|
Gordon-Lipkin, Eliza
|
|
|
30 |
C |
p.
|
artikel
|
| 15 |
Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study
|
Mignani, Renzo
|
|
|
30 |
C |
p.
|
artikel
|
| 16 |
Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents
|
Rizzo, William B.
|
|
|
30 |
C |
p.
|
artikel
|
| 17 |
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
|
Grant, Nathan
|
|
|
30 |
C |
p.
|
artikel
|
| 18 |
Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature
|
Al-Otaibi, Ali
|
|
|
30 |
C |
p.
|
artikel
|
| 19 |
Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening
|
Suzuki, Toshihiro
|
|
|
30 |
C |
p.
|
artikel
|
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