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Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 236 - 247
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 08/2019, Volume 6, Issue 8, pp. 1533 - 1540
In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1... 
CITRULLINE | HYPERAMMONEMIA | ARGININE | DOMINANT | REDUCED ORNITHINE | MUTATIONS | ALDH18A1 | NEUROSCIENCES | DELTA-PYRROLINE-5-CARBOXYLATE | DEFICIENCY | CLINICAL NEUROLOGY | MANIFESTATIONS | Proteins | Enzymes | Disease | Paralysis | Mutation | Data bases | Chromatography | Binding sites
Journal Article
Journal Article
Journal of Gastroenterology, ISSN 0944-1174, 8/2018, Volume 53, Issue 8, pp. 945 - 958
Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the... 
Bioinformatics analysis | Pathogenic mutations | Progressive familial intrahepatic cholestasis | Medicine & Public Health | Colorectal Surgery | Hepatology | Gastroenterology | Abdominal Surgery | Cryptogenic disease | Genetic variants | Surgical Oncology | SALT EXPORT PUMP | POLYMORPHISM | INDUCED LIVER-INJURY | P-GLYCOPROTEIN | PREGNANCY | CHILDREN | DISEASE | MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | FAMILIAL INTRAHEPATIC CHOLESTASIS | BILE | Cholestasis - genetics | Cholestasis, Intrahepatic - genetics | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | ATP Binding Cassette Transporter, Subfamily B - deficiency | Male | Zonula Occludens-2 Protein - genetics | Young Adult | ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics | Liver - diagnostic imaging | Adolescent | Adult | Female | Pruritus - etiology | ATP Binding Cassette Transporter, Subfamily B - genetics | Adenosine Triphosphatases - genetics | Cholestasis, Intrahepatic - complications | Mutation | Elasticity Imaging Techniques | Steroid Metabolism, Inborn Errors - genetics | Medical research | Jaundice, Obstructive | Bile acids | Analysis | Genes | Resveratrol | Genetic research | Medicine, Experimental | Adults | Cholestasis | Interfaces | Next-generation sequencing | Liver | Benign | Gallbladder diseases | Multivariate analysis | Bioinformatics | Bile
Journal Article
Thrombosis and Haemostasis, ISSN 0340-6245, 04/2010, Volume 103, Issue 4, pp. 826 - 832
Journal Article
Journal Article
Blood, ISSN 0006-4971, 2013, Volume 122, Issue 11, pp. 1987 - 1989
Journal Article