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Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
Journal of Inherited Metabolic Disease
|
December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
E M Charlotte Märtner, Esther M Maier, Katharina Mengler, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo
Tian Sun, Nicole Hammann, Lina Leghlam, et al.
Journal of Inherited Metabolic Disease
|
November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Christian Staufner, Tobias B Haack, Marlies G Köpke, et al.
Molecular Genetics and Metabolism
|
January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Nicole Hammann, Dominic Lenz, Ivo Baric, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
American Journal of Human Genetics
|
June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Margot A Cousin, Erin Conboy, Jian-She Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany
Dominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Brain Communications
|
May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Eleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
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Search research articles
Search
Showing results (21-30 of 38) with videos related to
Sort By:
Page
of 4
Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
Journal of Inherited Metabolic Disease
|
December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
E M Charlotte Märtner, Esther M Maier, Katharina Mengler, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo
Tian Sun, Nicole Hammann, Lina Leghlam, et al.
Journal of Inherited Metabolic Disease
|
November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Christian Staufner, Tobias B Haack, Marlies G Köpke, et al.
Molecular Genetics and Metabolism
|
January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Nicole Hammann, Dominic Lenz, Ivo Baric, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
American Journal of Human Genetics
|
June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Margot A Cousin, Erin Conboy, Jian-She Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany
Dominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Brain Communications
|
May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Eleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
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of 4