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Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 435 - 444
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 356 - 362
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1393 - 14
In infants intolerant of enteral feeding because of intestinal disease, parenteral nutrition may be associated with cholestasis, which can progress to... 
LIPID EMULSIONS | ACID RECEPTOR | INTRAHEPATIC CHOLESTASIS | SALT EXPORT PUMP | SHORT-BOWEL SYNDROME | MULTIDISCIPLINARY SCIENCES | PLANT STEROLS | BILIARY CHOLESTEROL SECRETION | LIVER-DISEASE | INTESTINAL FAILURE | CHILDREN | Receptors, CCR2 - genetics | Cholestasis - genetics | Liver - pathology | Caspases - immunology | Lipoproteins - genetics | Receptors, CCR2 - immunology | Humans | Receptors, Interleukin-1 - genetics | NF-kappa B - immunology | Hepatocytes - pathology | Male | Caspase 1 - immunology | Interleukin-1beta - genetics | Cholestasis - immunology | Liver - immunology | Receptors, Cytoplasmic and Nuclear - immunology | ATP Binding Cassette Transporter, Subfamily B, Member 11 - immunology | Cholestasis - etiology | Multidrug Resistance-Associated Proteins - immunology | Liver X Receptors - immunology | Multidrug Resistance-Associated Proteins - genetics | Infant, Newborn | Macrophages - immunology | Disease Models, Animal | ATP Binding Cassette Transporter, Subfamily G, Member 5 - genetics | Parenteral Nutrition - adverse effects | Macrophages - pathology | Signal Transduction | Caspases - genetics | Receptors, Interleukin-1 - immunology | Gene Expression Regulation | Interleukin-1beta - immunology | Receptors, Cytoplasmic and Nuclear - genetics | Hepatocytes - immunology | ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics | Cholestasis - pathology | Animals | NF-kappa B - genetics | Caspase 1 - genetics | ATP Binding Cassette Transporter, Subfamily G, Member 5 - immunology | Mice | Receptors, CCR2 - deficiency | Lipoproteins - immunology | Liver X Receptors - genetics | CC chemokine receptors | Transcription | Caspase-11 | Pathogenesis | Liver | Gallbladder diseases | Infants | Interleukin 1 receptors | Macrophages | Caspase-1 | Sterols | CCR2 protein | Intestine | Rodents | Interleukin 1 | Chemical bonds | NF-κB protein | Liver diseases | Nutrition | Liver X receptors | Phytosterols | Caspase | Parenteral nutrition | Pharmacology | Catheters | Enteral feeding | Signaling | Transporter | Monocyte chemoattractant protein 1 | Cholestasis | Bile
Journal Article
Clinical Genetics, ISSN 0009-9163, 2015, Volume 87, Issue 2, pp. 141 - 147
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy.... 
metabolic disorders | creatine transporter deficiency | liver disease | deletion | clinical genetics | X‐linked adrenoleukodystrophy | intellectual disability | neurology | Neurology | Clinical genetics | Intellectual disability | Liver disease | X-linked adrenoleukodystrophy | Deletion | Creatine transporter deficiency | Metabolic disorders | PROTEIN | DXS1357E | MITOCHONDRIAL | DYSTONIA | BAP31 | CYTOCHROME-C | INTERACTS | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | DEAFNESS | Humans | Adrenoleukodystrophy - pathology | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Brain Diseases, Metabolic, Inborn - mortality | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - mortality | ATP-Binding Cassette Transporters - genetics | Gene Deletion | Adult | Brain Diseases, Metabolic, Inborn - pathology | Creatine - deficiency | Brain Diseases, Metabolic, Inborn - genetics | Child | Infant, Newborn | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Cholestasis, Intrahepatic - genetics | Creatine - genetics | Genetic Association Studies | Mental Retardation, X-Linked - pathology | Membrane Proteins - genetics | Cholestasis, Intrahepatic - pathology | Intellectual Disability - pathology | ATP Binding Cassette Transporter, Sub-Family D, Member 1 | Nerve Tissue Proteins - genetics | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Cholestasis, Intrahepatic - mortality | Phenotype | Intellectual Disability - mortality | Adrenoleukodystrophy - mortality | Adrenoleukodystrophy - genetics | Genetic research | Deafness | Genetic aspects | Genes | Medical genetics | Genotype & phenotype | Genetic disorders | Mutation | Developmental disabilities
Journal Article
Drug Metabolism and Disposition, ISSN 0090-9556, 2014, Volume 42, Issue 9, pp. 1556 - 1566
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 02/2011, Volume 157, Issue 1, pp. 3 - 32
This review covers briefly the major conditions, genetic and non‐genetic, sometimes leading to abnormally elevated methionine, with emphasis on recent... 
adenosyltransferase | homocysteine | hypermethioninemia | methyltransferase | disease | prematurity | citrin | liver | tyrosinemia type I | low‐birth‐weight | fumarylacetoacetate | S‐adenosylmethionine | deficiency | methionine | glycine | S‐adenosylhomocysteine | hydrolase | homocystinuria | cystathionine beta‐synthase | Tyrosinemia type I | Disease | Hydrolase | Low-birth-weight | Cystathionine beta-synthase | Deficiency | Liver | Methionine | Methyltransferase | S-adenosylhomocysteine | Glycine | S-adenosylmethionine | Hypermethioninemia | Homocystinuria | Prematurity | Fumarylacetoacetate | Citrin | Adenosyltransferase | Homocysteine | IMPAIRED HOMOCYSTEINE TRANSSULFURATION | low-birth-weight | PYRIDOXINE-NONRESPONSIVE HOMOCYSTINURIA | ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | GENETICS & HEREDITY | cystathionine beta-synthase | GLYCINE N-METHYLTRANSFERASE | ADENOSYL-L-METHIONINE | METHIONINE ADENOSYLTRANSFERASE DEFICIENCY | TYROSINEMIA TYPE-I | NEONATAL INTRAHEPATIC CHOLESTASIS | ASPARTATE GLUTAMATE CARRIER | Methionine - blood | Glycine N-Methyltransferase - genetics | Humans | Glycine N-Methyltransferase - deficiency | Neonatal Screening | Amino Acid Metabolism, Inborn Errors - diagnosis | Methionine Adenosyltransferase - genetics | Tyrosinemias - diagnosis | Cystathionine beta-Synthase - deficiency | Mitochondrial Diseases - complications | Organic Anion Transporters - deficiency | Adenosylhomocysteinase - deficiency | Organic Anion Transporters - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Adenosylhomocysteinase - genetics | Methionine Adenosyltransferase - deficiency | Liver Diseases - complications | Female | Cystathionine beta-Synthase - genetics | Infant, Newborn | Liver Diseases - blood | Mitochondrial Diseases - genetics | Diagnosis, Differential | Tyrosinemias - therapy | cis-trans-Isomerases - deficiency | Calcium-Binding Proteins - deficiency | Tyrosinemias - genetics | Amino Acid Metabolism, Inborn Errors - therapy | cis-trans-Isomerases - genetics | Liver Diseases - metabolism | Mitochondrial Diseases - diagnosis | Calcium-Binding Proteins - genetics | Liver diseases | Isoenzymes | cbs gene | Methionine adenosyltransferase | S-Adenosylmethionine | Mitochondria | Reviews | Differential diagnosis | Mutation | Catalytic subunits
Journal Article