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Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2016, Volume 117, Issue 3, pp. 313 - 321
Journal Article
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 07/2017, Volume 24, Issue 7, p. 689
Journal Article
Molecular Aspects of Medicine, ISSN 0098-2997, 08/2017, Volume 56, pp. 10 - 24
Bile acids facilitate the absorption of lipids in the gut, but are also needed to maintain cholesterol homeostasis, induce bile flow, excrete toxic substances... 
Mass spectrometry | Bile acid biosynthesis | Inborn errors of metabolism | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | DELTA-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY | CEREBROTENDINOUS XANTHOMATOSIS | LIVER-DISEASE | OXYSTEROL 7-ALPHA-HYDROXYLASE DEFICIENCY | INBORN ERROR | PROGRESSIVE INTRAHEPATIC CHOLESTASIS | METHYLACYL-COA RACEMASE | CHENODEOXYCHOLIC ACID | 3-BETA-HYDROXY-DELTA-C-27-STEROID OXIDOREDUCTASE DEFICIENCY | N-ACYLTRANSFERASE | Spastic Paraplegia, Hereditary - genetics | Zellweger Syndrome - enzymology | Zellweger Syndrome - pathology | Cholestasis - genetics | Spastic Paraplegia, Hereditary - diagnosis | Humans | Zellweger Syndrome - genetics | Infant | Intestines - metabolism | Cholic Acid - biosynthesis | Chenodeoxycholic Acid - biosynthesis | Cholesterol - analysis | Adult | Spastic Paraplegia, Hereditary - pathology | Spastic Paraplegia, Hereditary - enzymology | Cholic Acid - analysis | Cholestasis - enzymology | Liver - metabolism | Cholestasis - diagnosis | Zellweger Syndrome - diagnosis | Cholesterol - metabolism | Chenodeoxycholic Acid - analysis | Cholestasis - pathology | Animals | Intestines - microbiology | Mass Spectrometry - instrumentation | Homeostasis - physiology | Liver - cytology | Mass Spectrometry - methods | Enterohepatic Circulation | Oxidases | Medical colleges | Liver | Lipids | Ursodiol | Amino acids | Liquid chromatography | Deoxycholic acid | Metabolites | Carrier proteins | Ionization | Ligases | Analysis | Physiological aspects | Index Medicus
Journal Article
Developmental Disabilities Research Reviews, ISSN 1940-5510, 06/2013, Volume 17, Issue 3, pp. 187 - 196
Journal Article
CHILD`S HEALTH, ISSN 2224-0551, 04/2018, Volume 13, Issue 2, pp. 194 - 203
The article deals with the modern principles for the diagnosis and treatment of peroxisomal biogenesis disorders of Zellweger syndrome spectrum according to... 
Zellweger syndrome | treatment | peroxisomal diseases | diagnosis | children
Journal Article
Gorm, ISSN 1300-4751, 05/2016, Volume 19, Issue 1
Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes,... 
Zellweger syndrome, DHAPAT, Prenatal diagnosis, Peroxisomal disorders, PEX gene
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2018, Volume 41, Issue 2, pp. 249 - 255
Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This leads to a range... 
Human Genetics | Biochemistry, general | Pediatrics | Medicine & Public Health | Metabolic Diseases | Zellweger spectrum disorders | Internal Medicine | Peroxisome biogenesis disorders | Coagulopathy | Vitamin K | MEDICINE, RESEARCH & EXPERIMENTAL | MICELLAR PHYLLOQUINONE VITAMIN-K-1 | INFANTS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | HEMOSTASIS | Prospective Studies | Protein Precursors - blood | Vitamin K Deficiency - diagnosis | Humans | Netherlands - epidemiology | Vitamin K Deficiency - blood | Male | Incidence | Zellweger Syndrome - drug therapy | Young Adult | Vitamin K Deficiency - drug therapy | Female | Retrospective Studies | Vitamin K - administration & dosage | Child | Severity of Illness Index | Blood Coagulation Disorders - epidemiology | Hemorrhage - epidemiology | Vitamin K Deficiency - epidemiology | Administration, Oral | Treatment Outcome | Hemorrhage - blood | Biomarkers - blood | Zellweger Syndrome - diagnosis | Proof of Concept Study | Hemorrhage - diagnosis | Blood Coagulation Disorders - drug therapy | Administration, Intravenous | Hemorrhage - drug therapy | Pilot Projects | Blood Coagulation - drug effects | Zellweger Syndrome - blood | Adolescent | Blood Coagulation Disorders - blood | Prothrombin | Blood Coagulation Disorders - diagnosis | Dietary Supplements | Zellweger Syndrome - epidemiology | Proteins | Medical research | Medical examination | Medicine, Experimental | Medical records | Thrombin | Blood | Vitamins | Nutrient deficiency | Liver diseases | Dietary supplements | Coagulation | Oral administration | Bleeding | Coagulation factors | Vitamin E | Supplementation | Original
Journal Article