Alice Kuster
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View article: Bone mineral density in French adults with early-treated phenylketonuria
Bone mineral density in French adults with early-treated phenylketonuria Open
Phenylketonuria (PKU) treatment requires a low-phenylalanine (Phe) diet limiting natural protein intake, using medical low-protein foods and Phe-free amino acids (AA) supplements along with micronutriments' supplies. Current recommendation…
View article: Genetic landscape of pediatric acute liver failure of indeterminate origin
Genetic landscape of pediatric acute liver failure of indeterminate origin Open
Background and Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%–16%) and inherited metabolic diseases (14%–28%). Yet, in up to 50% of cases the underlying etio…
View article: Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study Open
Background Classical infantile‐onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long‐term outcomes. Methods We r…
View article: Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Open
Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a sev…
View article: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines Open
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach …
View article: Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study Open
Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm for dystonia, predicting t…
View article: Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency Open
Introduction This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). Methods Clinic…
View article: P6192Pediatric cardiomyopathies: assessment of genetic causes by next generation sequencing of cardiomyopathy genes and genotype-phenotype correlation
P6192Pediatric cardiomyopathies: assessment of genetic causes by next generation sequencing of cardiomyopathy genes and genotype-phenotype correlation Open
Introduction: Cardiomyopathies (CM), including hypertrophic (HCM), dilated (DCM), restrictive (RCM), arythmogenic right ventricle (ARVC), left ventricule non compaction (LVNC), are cardiac muscle diseases of the young adults with a prevale…
View article: WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells Open
Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. Microlissencephaly is suspected to result from abnormalities in the proliferation or survival of neural progenitors. Despite the re…
View article: Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness Open
This study is the first of its kind, in a French population, to identify the phenotype associated with several combinations of PAH mutations. As others, it highlights the necessity of performing simultaneously BH4 loading test and molecula…
View article: Bilateral Aneurysm of the Internal Jugular Vein Associated with Menkes Disease: Diagnosis, Risk Factors and Management
Bilateral Aneurysm of the Internal Jugular Vein Associated with Menkes Disease: Diagnosis, Risk Factors and Management Open
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