41. NEJM -- A Fetal Fatty-Acid Oxidation Disorder As A Cause Of Liver Disease In Pre Sex Transm Infect 78 5859 Abstract Full Text; Rinaldo, P., Matern, D.,Bennett, MJ (2002). fatty ACID oxidation disorders. Annu. Rev. Physiol. http://content.nejm.org/cgi/content/short/340/22/1723

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 340:1723-1731 June 3, 1999 Number 22 Next A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women Jamal A. Ibdah, M.D., Ph.D., Michael J. Bennett, Ph.D., Piero Rinaldo, M.D., Ph.D., Yiwen Zhao, B.S., Beverly Gibson, B.S., Harold F. Sims, B.A., and Arnold W. Strauss, M.D. Table of Contents Full Text of this article PDF of this article Find Similar Articles in the Journal ... Related Articles in Medline Articles in Medline by Author: Ibdah, J. A. Strauss, A. W. Medline Citation Liver Disease ... Related Chapters at Harrison's Online ABSTRACT Background Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a deficiency of long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase. This enzyme resides in the mitochondrial trifunctional protein, which also contains the active site of long-chain 2,3-enoyl-CoA hydratase and long-chain 3-ketoacyl-CoA thiolase. We undertook

42. K.U.Leuven Research Database KU.Leuven Research project, Coenzyme A metabolism in thepathophysiology of fatty acid, oxidation disorders. http://cwisdb.cc.kuleuven.ac.be/research/P/3M00/project3M000012.htm

Home Research activities Research groups Key domains ... Nederlands Research project Coenzyme A metabolism in the pathophysiology of fatty acid oxidation disorders. Responsible for the project: Johan Van Hove , member of research team Division for paediatrics Title: Coenzyme A metabolism in the pathophysiology of fatty acid oxidation disorders. Project summary: Inborn errors of fatty acid oxidation present in an acute crisis with similar symptoms. Outside these episode, they are usually without symptoms. This suggests a compensatory mechanism. Central in the pathophysiology of these disorders is disturbance of coenzyme A metabolism. In this study, we evaluate directly the status of coenzyme A and its esters in animals with fatty acid oxidation disorders. Later, these findings are confronted with those in man. Pharmacologic manipulations of coenzyme A metabolism will be reviewed in animals and man. A new therapy with D-L-3 hydroburate for fatty acid oxidation disorders was developed. Project number: Duration of the project: Nederlands Christelle Maeyaert Realisation: Intranet development team URL: http://cwisdb.cc.kuleuven.ac.be/oc-bin/oc?lang=E

43. K.U.Leuven Research Database KU.Leuven Research project, Coenzyme A metabolism in the pathophysiologyof fatty acid, oxidation disorders and organic acidurias. http://cwisdb.cc.kuleuven.ac.be/research/P/3M98/project3M980110.htm

Home Research activities Research groups Key domains ... Nederlands Research project Coenzyme A metabolism in the pathophysiology of fatty acid oxidation disorders and organic acidurias. Responsible for the project: Jaak Jaeken , member of research team Division for paediatrics Title: Coenzyme A metabolism in the pathophysiology of fatty acid oxidation disorders and organic acidurias. Project summary: Congential inherited disorders of mitochondrial fatty beta-oxida- tion and of organic acidurias have a common biochemical presenta- tion of hypoglycemia, hyperammonemia, lactic acidosis, and liver disturbances. Central in the pathophysiology of all these disor- ders is an accumulation of disease specific acyl-coenzyme A es- ters, and a decrease in free coenzyme A. Despite the existence of the same metabolic block, these patients exhibit no or few symp- toms outside the acute episode. This indicates the existence of compensation mechanisms through which in the chronic state the previously described metabolic decompensations can be prevented. In this project, coenzyme A metabolisms is investigated in

44. The Newborn Screening Disorders fatty Acid oxidation disorders. The newborn screen tests for these seven fatty acidoxidation disorders Medium Chain AcylCoA Dehydrogenase Deficiency (MCAD). http://www.dhfs.state.wi.us/DPH_BFCH/Newborn_Screen/NBSdisorders.htm

Licensing Reference Center Search Family Health Home ... Staff Contacts The Newborn Screening Disorders This page will describe the disorders tested for by the newborn screen. If you have additional questions about these disorders, please ask your health care provider or go to additional information Biotinidase Deficiency Congenital Adrenal Hyperplasia (CAH) ... Fatty Acid Oxidation Disorders Biotinidase Deficiency Back to top Congenital Adrenal Hyperplasia ( CAH) Back to top Congenital Hypothyroidism Back to top Cystic Fibrosis (CF) Cystic fibrosis causes thick mucus to collect in the lungs and intestines. Mucus prevents proper breathing and can cause poor digestion of food. Lung infections and digestive problems will need medical treatment. A baby with CF will need regular medical care and a good diet. Back to top Galactosemia A baby with this problem cannot digest the sugar galactose. If not treated, galactose will build up in the body causing damage to the eyes, liver and brain. Babies with galactosemia must not have foods containing galactose or lactose, including breast milk and some infant formulas. Treatment includes a special diet and regular medical care.

45. Metabolic Disorders National Affiliation - Aid For Families Of Children With Met Organic Acid disorders including 2MCD, HMG, 3KETO, 3MCC, 3MCH, 5OXO, GAI, ICD,IVA, MMA, MACT, MCC, PA; and fatty Acid oxidation disorders including 24DCR http://www.metdna.org/disorders.shtml

Disorders Organic Acid Disorders Organic Acidemias (OA) are a class of inherited metabolic disorders that lead to accumulation of organic acids in biological fluids (blood and urine). This, in turn, produces disturbances in the acid-base balance and causes alterations in pathways of intermediary metabolism. Clinical symptoms of OA disorders may include vomiting, metabolic acidosis, ketosis, dehydration or coma, hyperammonemia, lactic acidosis, hypoglycemia, failure to thrive, hypotonia, global developmental delay, sepsis and hematological disorders . Feeding Effect : None Timing Effect : Early specimen collections may enhance the detection of these disorders. Confirmation : Referral to metabolic center for urine organic acids analysis, specific enzyme analysis and/or mutation analysis. Treatment : Low protein diets, carnitine or vitamin supplements, avoid fasting Used with permission http://www.slh.wisc.edu/newborn Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders (FOD) are a class of inborn errors of metabolism where there is an enzyme defect in the fatty acid metabolic pathway (use of dietary and stored fat). Clinical symptoms of FOD disorders include hypotonia, lethargy and vomiting; the hypoglycemia can lead to coma, encephalopathy, hepatic failure or death. Feeding Effect : None Timing Effect Confirmation : Referral to metabolic center for specific enzyme analysis, metabolite analysis and/or mutation analysis.

46. MS_MS Parent Information Organic Acid disorders. fatty Acid oxidation disorders. Amino Acid disorders. fattyacid oxidation disorders occur when one of these enzymes is missing. http://www.dhs.cahwnet.gov/pcfh/GDB/html/NBS/MS_MSParentDisordersDetected.htm

GENETIC DISEASE BRANCH PCFH Home Page GDB Home Page SUPPLEMENTAL METABOLIC SCREENING SUPPLEMENTAL METABOLIC SCREENING (Information For Parents) DISORDERS POTENTIALLY DETECTED All of the disorders below are autosomal recessive , which means that, although usually neither parent is affected, each parent must have passed a gene for the disorder to their baby in order for the baby to be affected. There is a one-in-four chance that this will happen each time the couple has a birth. Amino Acid Disorders Organic Acid Disorders Fatty Acid Oxidation Disorders Amino Acid Disorders The terms "amino acidemia" and "amino aciduria" refer to disorders in amino acid metabolism (breakdown process to provide energy or heat for body functions). Amino acids are the chemical building blocks of human proteins. Proteins are responsible for the functioning of cells in the body. In order for amino acids to work, specific enzymes must be present. Aminoacidurias are disorders resulting from deficiencies (lack) of enzymes needed for amino acid metabolism or transport. This results in abnormal quantities of amino acids building up in the urine or blood. In large quantities, amino acids can be toxic to the body. Symptoms in babies will vary by disorder and may include slow development, vomiting, diarrhea, abnormal ordor or color of urine and/or a buildup of acid in the body (acidosis) and can result in mental retardation.

47. MS/MS Potential Disorders SUPPLEMENTAL METABOLIC SCREENING. disorders Potentially Detected. Amino Acid disorders.Organic Acid disorders. fatty Acid oxidation disorders. Amino Acid disorders. http://www.dhs.cahwnet.gov/pcfh/GDB/html/NBS/MS_MSProviderDisordersDetected.htm

Primary Care and Family Health GENETIC DISEASE BRANCH GDB Home Page NBS Home Page Comments The California Newborn Screening Program SUPPLEMENTAL METABOLIC SCREENING Disorders Potentially Detected Amino Acid Disorders Organic Acid Disorders Fatty Acid Oxidation Disorders Amino Acid Disorders The term "Amino Acid Disorders" applies to a group of disorders characterized by the excretion of abnormally high levels of amino acids in blood (amino acidemia) and urine (amino aciduria). These autosomal recessive disorders result from a deficient enzyme activity in the pathway for the catabolism of the amino acid. Maple syrup urine disease (MSUD) Homocystinuria/cystathionine beta-synthetase deficiency (CBS) Citrullinemia/argininosuccinic acid synthetase deficiency (ASAS) Argininosuccinyl-CoA lyase deficiency (ASAL) Phenylketonuria (PKU) Argininemia/arginase deficiency Tyrosinemia Organic Acid Disorders The term "Organic Acid Disorder" applies to a group of disorders characterized by abnormally high levels of certain organic intermediates in the catabolism of the amino acids isoleucine, valine, methionine, threonine, tryptophan and lysine. In addition, oxidation of odd-chain fatty acids will produce certain organic acids. These autosomal recessive disorders result from deficient enzyme activity in the catabolic pathways mentioned.

48. In-Vitro Probe For Defects Of Fatty Acid Oxidation Van Hove, JLK Acylcarnitines in fibroblasts of patients with longchain 3-hydroxyacyl-CoAdehydrogenase deficiency and other fatty acid oxidation disorders. http://www.duke.edu/~mdfeezor/dukemedicalgenetics/invitroprobe.htm

In-Vitro Probe For Defects Of Fatty Acid Oxidation A. Description and clinical utility: Mitochondrial fatty acid beta-oxidation is mediated by a series of enzymes that catalyze the transfer (across mitochondrial membranes) and the degradation of long-chain fatty acids into acetyl-coenzyme A (coA) units, with transfer of electrons to the electron transport chain. Defects are known to occur in most of the enzymes that have thus far been characterized, and in most cases these defects cause the accumulation of abnormal acyl-coA intermediates that can be detected as acylcarnitines in the blood of affected patients (see "Acylcarnitine Profile"). In most cases, a presumptive diagnosis can be ascertained from the plasma or blood acylcarnitine profile, but there are some limitations with this in-vivo test. It is well established that the beta-oxidation system in the liver is normally quiescent until at least 4-6 hr into the fasting state, and thus abnormal metabolites might not reach detectable levels unless the patient is fasting or experiencing a clinical episode. When patients with certain defects of long-chain fatty acid oxidation become severely ill, the abnormalities can reflect multiple enzyme systems and lead to difficulties in interpretation. Also, certain drugs and dietary supplements can alter the acylcarnitine pattern and obscure a possible diagnosis. For these reasons, an in-vitro test was invented and developed in this laboratory. This test is based on the analysis of acylcarnitines that accumulate in the cells and media of fibroblast cultures exposed to long-chain fatty acid in the presence of excess L-carnitine (1,2). Under these controlled conditions, the patterns of disease profiles are consistent. The method is particularly well suited to the diagnosis of long-chain defects, which are the most difficult to diagnose using

49. Emergency Card For Infants With Suspected Fatty Acid Oxidation Disorders Emergency Card for Infants with Suspected fatty Acid oxidation disorders. This individual_,. Birth Date . http://newborn.chmcc.org/emergency_card_for_infants_with_.htm

Emergency Card for Infants with Suspected Fatty Acid Oxidation Disorders Birth Date Had a positive newborn screening test for , a fatty acid oxidation disorder. Breast milk, formula, or a glucose containing fluid should be provided at least every four- (4) hours. If this infant is unable to take oral fluids, IV fluids containing glucose should be provided, even if the baby looks perfectly well. Name of Physician_ Phone_

50. Supplemental Testing Project includes several additional genetic disorders that fall into two broad categoriesorganic acid/ amino acid disorders and fatty acid oxidation disorders. http://newborn.chmcc.org/supplemental_testing_project.htm

Supplemental Testing Project The voluntary supplemental testing project offers screening for several additional conditions that are currently not a required part of the routine screening program. The project will help the state to decide what is important to include in future required routine screening. Participation or taking part in this project is voluntary. In the hospital, parents will be asked to let the hospital staff know whether or not you want their baby tested for these disorders. If parents agree to participate, the blood sample already taken for the required screening will be screened for more disorders. There is no additional blood needed and there is no additional cost to parents or third party payers. What disorders are included in the Supplemental Testing Project? The voluntary project includes several additional genetic disorders that fall into two broad categories: organic acid/ amino acid disorders and fatty acid oxidation disorders. All of the conditions listed below are ascertained using mass spectrometry. Some of the analyses will indicate the possibility of more than one disorder. These disorders may also have different degrees of severity, and the screening analysis may not be able to determine whether an affected infant has a mild or severe form of the condition. Some milder conditions may not cause important health problems. Other disorders may be identified for which there is no useful treatment.

51. Untitled Document When the peroxisome cannot break down these long fatty acids, the result is aset of disorders known as the boxidation disorders, sometimes called pseudo http://www.peroxisome.org/Layperson/peroxisomefunctiontext.html

What different jobs does the peroxisome do? Peroxisomes are involved in the breakdown of many molecules Breakdown of fatty acids Above is a chemical structure of a typical fatty acid. Fatty acids are made up mostly of carbons and hydrogens, with an acid group at the end ( colored in blue ). Fatty acids can vary in the number of carbons attached to the acid group, ranging from only a few to as many as 36. These fatty acids are in nearly everything we eat cooking oils and butter are made up almost entirely of these types of molecules. We can store fatty acids, and later break them down to produce energy. This breakdown process is called b -oxidation (beta oxidation). Two organelles of the cell are involved in b -oxidation: the mitochondrion and the peroxisome. The mitochondrion is responsible for breaking down shorter fatty acids (less than about 20 carbons in length), while the peroxisome breaks down the longer fatty acids. When the peroxisome cannot break down these long fatty acids, the result is a set of disorders known as the b -oxidation disorders , sometimes called pseudo-Zellweger syndrome Breakdown of branched chain fatty acids The peroxisome is also responsible for the breakdown of certain branched chain fatty acids. A common branched chain fatty acid, phytanic acid, is shown below. It is different from the straight chain fatty acid shown above in that it has "branches" of carbon groups off the main carbon chain (

52. Oxidation Of Unsaturated Fatty Acids There have not been any disorders identified that are known to be characterizationof a new enzyme involved in the betaoxidation of unsaturated fatty acids http://www.peroxisome.org/Scientist/Biochemistry/auxiliaryboxtext.html

Oxidation of polyunsaturated fatty acids Oxidation of polyunsaturated fatty acids Unsaturated fatty acids are b -oxidized in the normal pathway as far as possible. However, polyunsaturation or unsaturation at odd positions of the acyl-CoA will produce a molecule that the major pathway cannot utilize as a substrate. To solve this problem, a number of enzymes exist in the peroxisome to convert these molecules to appropriate substrates which can be shuttled into the normal pathway. D D 2,4-dienoyl-CoA isomerase Certain types of polyunsaturated fatty acids may enter the b -oxidation spiral and produce a D 3,5-dienoyl-CoA. This product is unable to enter the normal b-oxidation spiral, because the acyl-CoA oxidase adds a double bond at the 2 position, but cannot do this because of the double bond at the 3 position. Therefore, D D 2,4-dienoyl-CoA isomerase converts the D 3,5-dienoyl-CoA to a 2,4-dienoyl-CoA (see next section for how this product is further modified). This enzyme is both peroxisomal and mitochondrial, although it is encoded by separate genes. The human protein terminates in the PTS1 consensus Ser-Lys-Leu.

53. University Of Sydney Public View Title, Quantitative Fibroblast Acylcarnitine Profiling In The Diagnostic andPrognostic Assessment of Mitochondrial fatty Acid ßoxidation disorders. http://setis.library.usyd.edu.au/adt/public_html/adt-NU/public/adt-NU20021003.12

Australian Digital Theses Program Thesis Details Title Quantitative Fibroblast Acylcarnitine Profiling In The Diagnostic and Prognostic Assessment of Mitochondrial Fatty Acid ß-Oxidation Disorders Author Sim, Keow Giak Institution University of Sydney Date Abstract Thesis 01front.pdf 55.1 Kb 02chapter1.pdf 158.5 Kb 03chapter2.pdf 72.6 Kb 04chapter3.pdf 127.4 Kb 05chapter4.pdf 286.4 Kb 06chapter5.pdf 244.6 Kb 07chapter6.pdf 12.5 Kb 08references.pdf 62.1 Kb 09appendix1.pdf 10.7 Kb 09appendix2.pdf 10.7 Kb 09appendix3.pdf 10.2 Kb

54. NCSLPH - Newborn Screening fatty Acid oxidation disorders fatty acid oxidation disorders are caused by a geneticdefect or absence of metabolic enzymes involved in breakdown of fatty http://204.211.171.13/Newborn/ConditionsTested.asp

55. Disorders Of Mitochondrial Fatty Acid Oxidation The summary for this Chinese (Traditional) page contains characters that cannot be correctly displayed in this language/character set. http://www.vghtc.gov.tw:8082/ped/teaching/cpc/8901cpc/sld035.htm

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56. Disorders Of Mitochondrial Fatty Acid Oxidation disorders of mitochondrial fatty Acid oxidation. http://www.vghtc.gov.tw:8082/ped/teaching/cpc/8901cpc/tsld035.htm

Disorders of mitochondrial Fatty Acid Oxidation «e¤@±i§ë¼v¤ù ¤U¤@±i§ë¼v¤ù ¦^¨ì²Ä¤@±i§ë¼v¤ù

57. BONNET D E., JOUVET P., RABIER D., BRIVET M. SAUDUBRAY JM Arrhythmias and conduction defectsas presenting symptoms of fatty acid oxidation disorders in children. http://www.necker.fr/irnem/Unites 1999/Fédération de Pédiatrie.htm

BONNET D., MARTIN D., de LONLAY P., VILLAIN E., JOUVET P., RABIER D., BRIVET M. SAUDUBRAY J.M. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation, (Services cités : Cardiologie Pédiatrique, Fédération de Pédiatrie, Biochimie Médicale, Métabolisme-Neurologie Génétique Pédiatrique COLOMB V. Home parenteral nutrition: the pediatric point of view. Nutrition, (Services cités : Fédération de Pédiatrie, Gastroentérologie Pédiatrique ROBERT J.J., TETE M.J., GUEST G., GAGNADOUX M.F., NIAUDET P. BROYER M. Diabetes mellitus in patients with infantile cystinosis after renal transplantation. Pediat. Nephrol., (Services cités : Fédération de Pédiatrie, Néphrologie Pédiatrique SAUDUBRAY J.M., TOUATI G., DELONLAY P., JOUVET P., NARCY C., LAURENT J., RABIER D., KAMOUN P., JAN D. REVILLON Y. Liver transplantation in urea cycle disorders. Eur. J. Pediat., (Suppl 2), S55-S59, 1999 (Services cités : Fédération de Pédiatrie, Biochimie Médicale SAUDUBRAY J.M., TOUATI G., DELONLAY P., JOUVET P., SCHLENZIG J., NARCY C., LAURENT J., RABIER D., KAMOUN P., JAN D. REVILLON Y.

58. [NBSannounce] Ohio Announces 16 New, Voluntary Newborn Screening Tests complications later. ODH will launch the program, which includes additional testingfor amino acid, organic acid and fatty acid oxidation disorders, on June http://www.geneticalliance.org/pipermail/nbsannouncements/2002-July/000109.html

[NBSannounce] Ohio announces 16 new, voluntary newborn screening tests NBS News NBSnews@savebabies.org Mon, 15 Jul 2002 22:22:47 -0400 Previous message: [NBSannounce] NBS Public Hearing Testimony of Brad Therrell Next message: [NBSannounce] CDC Newborn Screening Satellite Program Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] NEWBORN SCREENING IN THE NEWS ALERT Ohio Department of Health; June 27, 2002 ODH announces 16 new, voluntary newborn screening tests http://www.odh.state.oh.us/odhpress/news%20releases/mednews.newbornscreening NBSnews@savebabies.org. Thank you for your help. *********************************************************** The Newborn Screening News and Announcement list is hosted by: Save Babies Through Screening 5335 N. Helton Road Winston, GA 30187 Toll Free: 1-888-454-3383 Fax: 770-947-8507 Email: email@savebabies.org www.savebabies.org Newborn Screening Saves Babies One Foot At A Time (C) This message was not sent unsolicited. You are currently subscribed to this list. If you wish to unsubscribe from the list, please visit http://www.geneticalliance.org/mailman/listinfo/nbsannouncements#

59. United Mitochondrial Disease Foundation - Medical Article List By Subject Biochemistry ; 1996 ; 35(48) ; 1535663. Brivet ; M ; 3247* ; Rapid diagnosis oflong chain and medium chain fatty acid oxidation disorders using lymphocytes. http://biochemgen.ucsd.edu/umdf/LCAD.htm

The UMDF Medical Article List Subject: Long-Chain Acyl-CoA Dehydrogenation Disorder (LCAD) Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Andresen ; BS ; 3132 ; Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. ; 1996 ; 5(4) ; 461-472 Andresen ; BS ; 3135 cular Genetics ; The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 169-172 Aoyama ; T ; 5684 ; Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization. ; Genomics ; 1996 ; 37(1) ; 144-5 Aoyama ; T ; 3138* ; Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. ; Am J Hum Genet ; 1995 ; 57(2) ; 273-283

60. United Mitochondrial Disease Foundation - Medical Article List By Subject Coates ; PM ; 2334* ; New developments in the diagnosis and investigationof mitochondrial fatty acid oxidation disorders. Review http://biochemgen.ucsd.edu/umdf/SCAD.htm

The UMDF Medical Article List Subject: Short-Chain Acyl-CoA Dehydrogenation Disorder (SCAD) Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Andresen ; BS ; 2347* ; A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). ; 1993 ; 53(3) ; 730-9 Arden ; KC ; 3142* ournal of Human Genetics ; Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. ; Genomics ; 1995 ; 25(3) ; 743-745 Babidge ; W ; 5695 ; Sulfides impair short chain fatty acid beta-oxidation at acyl-CoA dehydrogenase level in colonocytes: implications for ulcerative colitis. ; Mol Cell Biochem ; 1998 ; 181(1-2) ; 117-24 Baerlocher ; KE ; 5696 ; Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. ; J Inherit Metab Dis ; 1997 ; 20(3) ; 427-31

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