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Journal Article
Case Reports in Gastroenterology, ISSN 1662-0631, 06/2018, Volume 12, Issue 2, pp. 360 - 372
Zellweger spectrum disorders (ZSDs), a subgroup of peroxisomal biogenesis disorders, have a generalized defect in peroxisome function. Liver disease in ZSDs... 
Case Series | Bile acid synthesis | Peroxisomal biogenesis disorder | Liver function | Zellweger spectrum disorder | Cholic acid | Long-term treatment | Urine | Enzymes | Liver diseases | Laboratories | Biosynthesis | FDA approval | Patients | Fatty acids | Hospitals | Metabolites | Biopsy | Age | Bile
Journal Article
Cell, ISSN 0092-8674, 2000, Volume 103, Issue 1, pp. 127 - 140
In animal cells, duplication of centrosomes and DNA is coordinated. Since CDK2/cyclin E triggers initiation of both events, activation of CDK2/cyclin E is... 
Journal Article
Pediatrics, ISSN 0031-4005, 08/2016, Volume 138, Issue 2, p. e1
  Cholestatic liver disease has long been associated with childhood rickets, secondary to impaired absorption of fat-soluble vitamin D. Elevated serum levels... 
Babies | Liver diseases | Genetic disorders | Vitamin D | Metabolism
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 02/2018, Volume 66, Issue 2, pp. e57 - e59
Journal Article
Journal Article
Hepatology (Baltimore, Md.), ISSN 0270-9139, 4/2018, Volume 67, Issue 4, pp. 1531 - 1545
Bile salt export pump BSEP (ABCB11) is a liver-specific adenosine triphosphate-cassette binding transporter that mediates canalicular bile salt excretion from... 
canalicular transporter | Mdr1 | PFIC2 | BSEP | rapamycin
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, p. e0156738
Background & Aims The etiology of acute liver failure (ALF) remains elusive in almost half of affected children. We hypothesized that inherited mitochondrial... 
DIAGNOSIS | MITOCHONDRIAL-DNA DEPLETION | RIBONUCLEOTIDE REDUCTASE SUBUNIT | MULTIDISCIPLINARY SCIENCES | DISEASE | ACAD9 | CHOLESTASIS | COMPLEX I DEFICIENCY | MOLECULAR CHARACTERISTICS | MUTATIONS | P53R2 | Liver - pathology | Humans | Liver - metabolism | Child, Preschool | Infant | Male | Liver Failure, Acute - metabolism | Mitochondria - metabolism | Mitochondria - pathology | Genetic Variation | DNA, Mitochondrial - genetics | Energy Metabolism | Mitochondria - genetics | Liver Failure, Acute - genetics | Liver Failure, Acute - pathology | Adolescent | Female | High-Throughput Nucleotide Sequencing | Retrospective Studies | Mutation | Child | Infant, Newborn | Energy metabolism | Liver failure | Care and treatment | Bioenergetics | Patient outcomes | Mitochondrial diseases | Research | Risk factors | Pediatrics | Phosphorylation | Dehydrogenases | Disease | Liver | Genes | Insertion | Pyruvic acid | Mitochondrial DNA | Gene sequencing | Mitochondria | Ribonucleotide reductase | Metabolites | Etiology | Hepatology | Gastroenterology | Genetics | Oxidation | Children | Lactic acidosis | Deoxyribonucleic acid--DNA | Liver diseases | Biochemical analysis | Nutrition | Metabolism | Electron microscopy | Patients | Fatty acids | Steatosis | Genetic variance | Pathology | Hospitals | Hepatocytes | Nitric oxide | Lactic acid | Electron transport | Acidosis | Deoxyribonucleic acid | DNA
Journal Article
Human Pathology, ISSN 0046-8177, 2015, Volume 49, pp. 27 - 32
Summary Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and... 
Pathology | Metabolic disease | Lethal neonatal lactic acidosis | Whole-exome sequencing | Mitochondriopathy | Complex I deficiency | ACAD9 defect | Mitochondrial hyperplasia | Multiorgan failure | DIAGNOSIS | CARDIOMYOPATHY | PATHOLOGY | GENE | DNA | EXPRESSION | Immunohistochemistry | Fibroblasts - enzymology | Diaphragm - pathology | Mitochondria, Heart - pathology | Electron Transport Complex I - deficiency | Humans | Hyperplasia | Male | Cardiomyopathy, Hypertrophic - enzymology | Acyl-CoA Dehydrogenases - genetics | Leigh Disease - pathology | Muscle Weakness - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Autopsy | DNA Mutational Analysis | Electron Transport Complex I - genetics | Fatal Outcome | Muscle Weakness - pathology | Acyl-CoA Dehydrogenases - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Kidney Tubules - pathology | Infant, Newborn | Multiple Organ Failure - pathology | Acyl-CoA Dehydrogenase - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Mitochondria, Liver - pathology | Mitochondria, Heart - enzymology | Fibroblasts - pathology | Leigh Disease - genetics | Acidosis, Lactic - pathology | Cardiomyopathy, Hypertrophic - diagnosis | Mitochondrial Diseases - enzymology | Phenotype | Acyl-CoA Dehydrogenase - deficiency | Kidney Tubules - enzymology | Acidosis - diagnosis | Multiple Organ Failure - enzymology | Acidosis - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Mitochondrial Diseases - pathology | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Cause of Death | Acidosis, Lactic - enzymology | Amino Acid Metabolism, Inborn Errors - diagnosis | DNA, Mitochondrial - genetics | Muscle Weakness - enzymology | Transfection | Mitochondrial Diseases - genetics | Mitochondria, Muscle - enzymology | Mitochondria, Muscle - pathology | Leigh Disease - enzymology | Cells, Cultured | Multiple Organ Failure - genetics | Codon, Nonsense | Mitochondria, Liver - enzymology | Multiple Organ Failure - diagnosis | Diaphragm - enzymology | Acidosis - pathology | Leigh Disease - diagnosis | Acidosis - enzymology | Mitochondrial Diseases - diagnosis | Acidosis, Lactic - diagnosis | Cardiomyopathy, Hypertrophic - pathology | Infants (Newborn) | Muscles | Genetic aspects | Mitochondrial DNA | Liver | Heart | Urine | Cytochrome | Antigens | Enzymes | Cytomegalovirus | Cardiomyopathy | Data bases | Defects | Musculoskeletal system | Rodents | Fibroblasts | Oxidation | Mutation | Metabolic disorders | Deoxyribonucleic acid--DNA
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 09/2013, Volume 74, Issue 1, pp. 204 - 210
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 03/2017, Volume 41, Issue 3, pp. 354 - 364
Cystic biliary atresia (CBA), a rare cystic expansion of atretic extrahepatic bile ducts in young infants, overlaps in age at presentation and imaging features... 
biliary atresia | cystic biliary malformation | biliary cyst | choledochal cyst | cystic biliary atresia | SURGERY | ETIOLOGY | BILE-DUCT | PATHOLOGY | SUBGROUP | Biliary Atresia - diagnosis | Choledochal Cyst - diagnosis | Diagnosis, Differential | Humans | Female | Infant | Male | Bile Ducts, Extrahepatic - pathology | Biliary Atresia - pathology | Infant, Newborn | Choledochal Cyst - pathology
Journal Article