| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics
|
Georgiou, Theodoros
|
|
|
41 |
C |
p.
|
artikel
|
| 2 |
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis
|
Tran, Thi Chi Mai
|
|
|
41 |
C |
p.
|
artikel
|
| 3 |
An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency
|
McGowan, Rachel
|
|
|
41 |
C |
p.
|
artikel
|
| 4 |
A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy — A case report
|
Fernandes, Joana
|
|
|
41 |
C |
p.
|
artikel
|
| 5 |
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report
|
Sobrinho, Lívia Maria Ferreira
|
|
|
41 |
C |
p.
|
artikel
|
| 6 |
A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient
|
Pokhrel, Shami
|
|
|
41 |
C |
p.
|
artikel
|
| 7 |
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
|
Hsu, Rai-Hseng
|
|
|
41 |
C |
p.
|
artikel
|
| 8 |
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran
|
Kuo, Hung-Chou
|
|
|
41 |
C |
p.
|
artikel
|
| 9 |
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands
|
Zhou, Yuwei
|
|
|
41 |
C |
p.
|
artikel
|
| 10 |
Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review
|
Noori, Mahmood
|
|
|
41 |
C |
p.
|
artikel
|
| 11 |
Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons
|
Thomas, Lucie
|
|
|
41 |
C |
p.
|
artikel
|
| 12 |
Comparative pharmacokinetics and pharmacodynamics of two formulations of agalsidase beta (agalsidase Biosidus) and Fabrazyme® by intravenous infusion in healthy male volunteers
|
Berstein, Viridiana
|
|
|
41 |
C |
p.
|
artikel
|
| 13 |
Compensation for metabolic dietitians practicing in the United States: 2023 genetic metabolic dietitians international professional status survey
|
Viau, Krista
|
|
|
41 |
C |
p.
|
artikel
|
| 14 |
Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]
|
Guelbert, Norberto
|
|
|
41 |
C |
p.
|
artikel
|
| 15 |
Corrigendum to “Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II” [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]
|
Yamazaki, Narutoshi
|
|
|
41 |
C |
p.
|
artikel
|
| 16 |
D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?
|
Kingma, Sandra D.K.
|
|
|
41 |
C |
p.
|
artikel
|
| 17 |
Diagnostic challenge of cutis Verticis Gyrata (CVG) in a patient presenting clinical features of Noonan or turner syndrome
|
Kanotra, Muskan
|
|
|
41 |
C |
p.
|
artikel
|
| 18 |
Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders
|
Suzuki, Mitsuyoshi
|
|
|
41 |
C |
p.
|
artikel
|
| 19 |
Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria
|
Ehsasat Vatan, Akram
|
|
|
41 |
C |
p.
|
artikel
|
| 20 |
Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data
|
Arnoux, Jean-Baptiste
|
|
|
41 |
C |
p.
|
artikel
|
| 21 |
Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis
|
Hishida, Ryuichi
|
|
|
41 |
C |
p.
|
artikel
|
| 22 |
Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases
|
Sokalski, Victoria
|
|
|
41 |
C |
p.
|
artikel
|
| 23 |
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene
|
Dalili, Setila
|
|
|
41 |
C |
p.
|
artikel
|
| 24 |
Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect
|
Fernández-Lainez, Cynthia
|
|
|
41 |
C |
p.
|
artikel
|
| 25 |
MADD-like pattern of acylcarnitines associated with sertraline use
|
Ingoglia, Filippo
|
|
|
41 |
C |
p.
|
artikel
|
| 26 |
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia
|
Luo, Cheng
|
|
|
41 |
C |
p.
|
artikel
|
| 27 |
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families
|
Sui, Yu
|
|
|
41 |
C |
p.
|
artikel
|
| 28 |
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation
|
Fares, Angie H.
|
|
|
41 |
C |
p.
|
artikel
|
| 29 |
Oral health care knowledge among Phenylketonuria patients in the Latvian population
|
Abola, Iveta
|
|
|
41 |
C |
p.
|
artikel
|
| 30 |
OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis
|
Natalia, Borkowska
|
|
|
41 |
C |
p.
|
artikel
|
| 31 |
Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program
|
Al Mutairi, Fuad
|
|
|
41 |
C |
p.
|
artikel
|
| 32 |
Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD)
|
Gregor, Ashley N.
|
|
|
41 |
C |
p.
|
artikel
|
| 33 |
Patient voices on PKU care: Insights from focus groups with current and former patients
|
Zhu, Emily
|
|
|
41 |
C |
p.
|
artikel
|
| 34 |
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series
|
Scott, Ethan M.
|
|
|
41 |
C |
p.
|
artikel
|
| 35 |
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report
|
Hattori, Yusuke
|
|
|
41 |
C |
p.
|
artikel
|
| 36 |
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature
|
Lu, Chih-Hsuan
|
|
|
41 |
C |
p.
|
artikel
|
| 37 |
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition
|
Ezell, Kimberly M.
|
|
|
41 |
C |
p.
|
artikel
|
| 38 |
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia
|
Alsayed, A.
|
|
|
41 |
C |
p.
|
artikel
|
| 39 |
The relationship between menstrual cycle characteristics, premenstrual syndrome prevalence and blood phenylalanine level in women with PKU
|
Selamioğlu, Arzu
|
|
|
41 |
C |
p.
|
artikel
|
| 40 |
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report
|
Van Baelen, Amber
|
|
|
41 |
C |
p.
|
artikel
|
| 41 |
Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease
|
Kobayashi, Hiroshi
|
|
|
41 |
C |
p.
|
artikel
|
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