Search details
1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Article
in English
| MEDLINE | ID: mdl-37976411
2.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34626583
3.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37924258
4.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38244286
5.
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
J Inherit Metab Dis
; 2024 Jan 27.
Article
in English
| MEDLINE | ID: mdl-38279772
6.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38563533
7.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36305855
8.
Etiology and Outcome of Adult and Pediatric Acute Liver Failure in Europe.
J Pediatr Gastroenterol Nutr
; 77(1): 115-120, 2023 07 01.
Article
in English
| MEDLINE | ID: mdl-36930963
9.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Am J Hum Genet
; 105(1): 108-121, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31204009
10.
Severe acute hepatitis and acute liver failure of unknown origin in children: a questionnaire-based study within 34 paediatric liver centres in 22 European countries and Israel, April 2022.
Euro Surveill
; 27(19)2022 05.
Article
in English
| MEDLINE | ID: mdl-35551705
11.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33872655
12.
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
J Clin Immunol
; 41(8): 1781-1793, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34386911
13.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33274439
14.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genet Med
; 22(11): 1863-1873, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32699352
15.
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Genet Med
; 20(10): 1255-1265, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29419818
16.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37272928
17.
The recent outbreak of acute severe hepatitis in children of unknown origin - what is known so far.
J Hepatol
; 77(4): 1214-1215, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35714809
18.
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
J Inherit Metab Dis
; 39(1): 3-16, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26541327
19.
Thermodynamic stability and structural properties of cluster crystals formed by amphiphilic dendrimers.
J Chem Phys
; 144(20): 204901, 2016 May 28.
Article
in English
| MEDLINE | ID: mdl-27250325
20.
Response to Spagnoli et al.
Genet Med
; 21(7): 1665-1666, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30531812