Lisa Kratz

Assistant Professor

1986 …2019
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Research Output 1986 2019

2019

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

Thompson, E., Abdalla, E., Superti-Furga, A., McAlister, W., Kratz, L., Unger, S., Royer-Bertrand, B., Campos-Xavier, B., Mittaz-Crettol, L., Amin, A. K., DeSanto, C., Wilson, D. B., Douglas, G., Kozel, B. & Shinawi, M., Mar 1 2019, In : Bone. 120, p. 354-363 10 p.

Research output: Contribution to journalArticle

Exome
Phenotype
Sterols
Exons
Extremities

Severe neonatal manifestations of infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency

Peroutka, C., Salas, J., Britton, J., Bishop, J., Kratz, L., Gilmore, M., Fahrner, J. A., Golden, W. C. & Wang, T., Jan 1 2019, JIMD Reports. Springer, p. 71-76 6 p. (JIMD Reports; vol. 45).

Research output: Chapter in Book/Report/Conference proceedingChapter

Leucine-tRNA Ligase
Liver Failure
Liver
Failure to Thrive
Anemia
2018

Elevated creatinine in a patient on IVIG-therapy

Knezevic, C. E., Ness, M. A., Kratz, L. E. & Marzinke, M. A., Nov 1 2018, In : Clinica Chimica Acta. 486, p. 94-97 4 p.

Research output: Contribution to journalArticle

Passive Immunization
Intravenous Immunoglobulins
Proline
Creatinine
Sarcosine Oxidase

Heterozygous IDH1R132H/WT created by “single base editing” inhibits human astroglial cell growth by downregulating YAP

Wei, S., Wang, J., Oyinlade, O., Ma, D., Wang, S., Kratz, L., Lal, B., Xu, Q., Liu, S., Shah, S. R., Zhang, H., Li, Y., Quiñones-Hinojosa, A., Zhu, H., Huang, Z. Y., Cheng, L., Qian, J. & Xia, S., May 30 2018, (Accepted/In press) In : Oncogene. p. 1-15 15 p.

Research output: Contribution to journalArticle

Isocitrate Dehydrogenase
Down-Regulation
Growth
Proteins
Mutation
2017

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome

Wassif, C. A., Kratz, L., Sparks, S. E., Wheeler, C., Bianconi, S., Gropman, A., Calis, K. A., Kelley, R. I., Tierney, E. & Porter, F. D., Mar 1 2017, In : Genetics in Medicine. 19, 3, p. 297-305 9 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Simvastatin
Placebos
Dehydrocholesterols
Sterols

Randomized open-label trial of dextromethorphan in Rett syndrome

Smith-Hicks, C. L., Gupta, S., Ewen, J. B., Hong, M., Kratz, L., Kelley, R., Tierney, E., Vaurio, R., Bibat, G. M., Sanyal, A., Yenokyan, G., Brereton, N., Johnston, M. V. & Naidu, S., Oct 17 2017, In : Neurology. 89, 16, p. 1684-1690 7 p.

Research output: Contribution to journalArticle

Dextromethorphan
Rett Syndrome
Seizures
Checklist
Electroencephalography
2016
Caproates
Plasticizers
Extracorporeal Membrane Oxygenation
Carnitine
Newborn Infant

Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes

Edmunds, L. R., Otero, P. A., Sharma, L., D'Souza, S., Dolezal, J. M., David, S., Lu, J., Lamm, L., Basantani, M., Zhang, P., Sipula, I. J., Li, L., Zeng, X., Ding, Y., Ding, F., Beck, M. E., Vockley, J., Monga, S. P. S., Kershaw, E. E., O'Doherty, R. M. & 6 others, Kratz, L., Yates, N. A., Goetzman, E. P., Scott, D., Duncan, A. W. & Prochownik, E. V., May 24 2016, In : Oncotarget. 7, 21, p. 30379-30395 17 p.

Research output: Contribution to journalArticle

Hepatocytes
Lipids
Cytochrome P-450 Enzyme System
Liver
Tyrosinemias

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

Driver, A. M., Kratz, L., Kelley, R. I. & Stottmann, R. W., Jul 1 2016, In : Neurobiology of Disease. 91, p. 69-82 14 p.

Research output: Contribution to journalArticle

Neurogenesis
Prosencephalon
Cholesterol
17-Hydroxysteroid Dehydrogenases
Embryonic Structures
2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

Posey, J. E., Burrage, L. C., Campeau, P. M., Lu, J. T., Eble, T. N., Kratz, L., Schlesinger, A. E., Gibbs, R. A., Lee, B. H. & Nagamani, S. C. S., Jun 1 2015, In : American Journal of Medical Genetics, Part A. 167, 6, p. 1309-1314 6 p.

Research output: Contribution to journalArticle

Chondrodysplasia Punctata
Cataract
Exome
Congenital Ichthyosiform Erythroderma
Extremities

Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR

Gabitova, L., Restifo, D., Gorin, A., Manocha, K., Handorf, E., Yang, D. H., Cai, K. Q., Klein-Szanto, A. J., Cunningham, D., Kratz, L., Herman, G. E., Golemis, E. A. & Astsaturov, I., Sep 22 2015, In : Cell Reports. 12, 11, p. 1927-1938 12 p.

Research output: Contribution to journalArticle

Sterols
Metabolites
Epidermal Growth Factor Receptor
Liver
Tumors
2014

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

Sparks, S. E., Wassif, C. A., Goodwin, H., Conley, S. K., Lanham, D. C., Kratz, L., Hyland, K., Gropman, A., Tierney, E. & Porter, F. D., 2014, In : Journal of Inherited Metabolic Disease. 37, 3, p. 415-420 6 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Neurotransmitter Agents
Homovanillic Acid
Hydroxyindoleacetic Acid
Sterols

Desmosterolosis: An illustration of diagnostic ambiguity of cholesterol synthesis disorders

Dias, C., Rupps, R., Millar, B., Choi, K., Marra, M., Demos, M., Kratz, L. & Boerkoel, C. F., Jun 25 2014, In : Orphanet Journal of Rare Diseases. 9, 1, 94.

Research output: Contribution to journalArticle

Cholesterol
Agenesis of Corpus Callosum
Failure to Thrive
Mutation
Atrophy
2013

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

Gauthier, N., Wu, J. W., Wang, S. P., Allard, P., Mamer, O. A., Sweetman, L., Moser, A. B., Kratz, L., Alvarez, F., Robitaille, Y., Lépine, F. & Mitchell, G. A., Jul 5 2013, In : PLoS One. 8, 7, e60581.

Research output: Contribution to journalArticle

acyl coenzyme A
Hyperammonemia
Acyl Coenzyme A
hypoglycemia
Hypoglycemia

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation

Sukhanova, A., Gorin, A., Serebriiskii, I. G., Gabitova, L., Zheng, H., Restifo, D., Egleston, B. L., Cunningham, D., Bagnyukova, T., Liu, H., Nikonova, A., Adams, G. P., Zhou, Y., Yang, D. H., Mehra, R., Burtness, B., Cai, K. Q., Klein-Szanto, A., Kratz, L., Kelley, R. I. & 4 others, Weiner, L. M., Herman, G. E., Golemis, E. A. & Astsaturov, I., Jan 2013, In : Cancer Discovery. 3, 1, p. 96-112 17 p.

Research output: Contribution to journalArticle

Epidermal Growth Factor Receptor
Cholesterol
Genes
NADP
Neoplasms
2012
Adrenoleukodystrophy
Lysophosphatidylcholines
Carnitine
Choline
Screening

Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome

Herman, G. E. & Kratz, L., Nov 15 2012, In : American Journal of Medical Genetics, Part A. 160 C, 4, p. 301-321 21 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Sterols
Cholesterol
Lanosterol
Enzymes

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner

Clark, P. J., Thompson, A. J., Vock, D. M., Kratz, L., Tolun, A. A., Muir, A. J., Mchutchison, J. G., Subramanian, M., Millington, D. M., Kelley, R. I. & Patel, K., Jul 2012, In : Hepatology. 56, 1, p. 49-56 8 p.

Research output: Contribution to journalArticle

Hepacivirus
Cholesterol
Genotype
Lanosterol
Sterols
2011

Cholesterol metabolism is required for intracellular Hedgehog signal transduction in vivo

Stottmann, R. W., Turbe-Doan, A., Tran, P., Kratz, L., Moran, J. L., Kelley, R. I. & Beier, D. R., Sep 2011, In : PLoS Genetics. 7, 9, e1002224.

Research output: Contribution to journalArticle

cholesterol metabolism
Hedgehogs
Erinaceidae
signal transduction
Signal Transduction

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature

Schaaf, C. P., Koster, J., Katsonis, P., Kratz, L., Shchelochkov, O. A., Scaglia, F., Kelley, R. I., Lichtarge, O., Waterham, H. R. & Shinawi, M., Jul 2011, In : American Journal of Medical Genetics, Part A. 155, 7, p. 1597-1604 8 p.

Research output: Contribution to journalArticle

Desmosterol
Megalencephaly
Arthrogryposis
Mutation
Flavin-Adenine Dinucleotide

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

He, M., Kratz, L., Michel, J. J., Vallejo, A. N., Ferris, L., Kelley, R. I., Hoover, J. J., Jukic, D., Gibson, K. M., Wolfe, L. A., Ramachandran, D., Zwick, M. E. & Vockley, J., Mar 1 2011, In : Journal of Clinical Investigation. 121, 3, p. 976-984 9 p.

Research output: Contribution to journalArticle

Microcephaly
Meiosis
Dermatitis
Sterols
Mutation
2010

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

Pei, W., Kratz, L., Bernardini, I., Sood, R., Yokogawa, T., Dorward, H., Ciccone, C., Kelley, R. I., Anikster, Y., Burgess, H. A., Huizing, M. & Feldman, B., Aug 1 2010, In : Development. 137, 15, p. 2587-2596 10 p.

Research output: Contribution to journalArticle

Zebrafish
Acids
Movement Disorders
Ataxia
Optic Nerve

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

Niu, D. M., Chong, K. W., Hsu, J. H., Wu, T. J. T., Yu, H. C., Huang, C. H., Lo, M. Y., Kwok, C. F., Kratz, L. & Ho, L. T., Aug 2010, In : Journal of Inherited Metabolic Disease. 33, 4, p. 437-443 7 p.

Research output: Contribution to journalArticle

Molecular Biology
Phytosterols
Therapeutics
Cholesterol
Cholestyramine Resin

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

McLarren, K. W., Severson, T. M., Du Souich, C., Stockton, D. W., Kratz, L., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., Chou, A., Debarber, A. E., Merkens, L. S., Michaud, J. L., Waters, P. J., Yin, J., McGillivray, B., Demos, M. & 20 others, Rouleau, G. A., Grzeschik, K. H., Smith, R., Tarpey, P. S., Shears, D., Schwartz, C. E., Gecz, J., Stratton, M. R., Arbour, L., Hurlburt, J., Van Allen, M. I., Herman, G. E., Zhao, Y., Moore, R., Kelley, R. I., Jones, S. J. M., Steiner, R. D., Raymond, F. L., Marra, M. A. & Boerkoel, C. F., Dec 10 2010, In : American Journal of Human Genetics. 87, 6, p. 905-914 10 p.

Research output: Contribution to journalArticle

Alleles
Cholesterol
Temperature
Sterols
Intellectual Disability
2007

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz Syndrome (SLOS)

Shackleton, C. H. L., Marcos, J., Palomaki, G. E., Craig, W. Y., Kelley, R. I., Kratz, L. & Haddow, J. E., Sep 15 2007, In : American Journal of Medical Genetics, Part A. 143, 18, p. 2129-2136 8 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Prenatal Diagnosis
Mothers
Urine
Pregnanetriol
2006

Abnormalities of cholesterol metabolism in autism spectrum disorders

Tierney, E., Bukelis, I., Thompson, R., Ahmed, K., Aneja, A., Kratz, L. & Kelley, R. I., Sep 5 2006, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 141, 6, p. 666-668 3 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Sterols
Cholesterol
Autistic Disorder
Incidence

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy

Correa-Cerro, L. S., Wassif, C. A., Kratz, L., Miller, G. F., Munasinghe, J. P., Grinberg, A., Fliesler, S. J. & Porter, F. D., Mar 2006, In : Human Molecular Genetics. 15, 6, p. 839-851 13 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Simvastatin
Central Nervous System
Dietary Cholesterol
Sterols

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome

Craig, W. Y., Haddow, J. E., Palomaki, G. E., Kelley, R. I., Kratz, L., Shackleton, C. H. L., Marcos, J., Stephen Tint, G., MacRae, A. R., Nowaczyk, M. J., Kloza, E. M., Irons, M. B. & Roberson, M., Sep 2006, In : Prenatal Diagnosis. 26, 9, p. 842-849 8 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Down Syndrome
Prenatal Diagnosis
Pregnancy
Mothers

Noninvasive Assessment of Brain Injury in a Canine Model of Hypothermic Circulatory Arrest Using Magnetic Resonance Spectroscopy

Barreiro, C. J., Williams, J. A., Fitton, T. P., Lange, M. S., Blue, M. E., Kratz, L., Barker, P. B., Degaonkar, M., Gott, V. L., Troncoso, J. C., Johnston, M. V. & Baumgartner, W. A., May 2006, In : Annals of Thoracic Surgery. 81, 5, p. 1593-1598 6 p.

Research output: Contribution to journalArticle

Diazoxide
Nervous System Trauma
Choline
Brain Injuries
Canidae

Valproic Acid Prevents Brain Injury in a Canine Model of Hypothermic Circulatory Arrest: A Promising New Approach to Neuroprotection During Cardiac Surgery

Williams, J. A., Barreiro, C. J., Nwakanma, L. U., Lange, M. S., Kratz, L., Blue, M. E., Berrong, J., Patel, N. D., Gott, V. L., Troncoso, J. C., Johnston, M. V. & Baumgartner, W. A., Jun 2006, In : Annals of Thoracic Surgery. 81, 6, p. 2235-2242 8 p.

Research output: Contribution to journalArticle

Valproic Acid
Brain Injuries
Thoracic Surgery
Canidae
Dogs
2003

Clinical variability in Rett syndrome

Naidu, S., Bibat, G. M., Kratz, L., Kelley, R. I., Pevsner, J. A., Hoffman, E., Cuffari, C., Rohde, C. A., Blue, M. E. & Johnston, M. V., Oct 2003, In : Journal of Child Neurology. 18, 10, p. 662-668 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Neurons
X Chromosome Inactivation
Missense Mutation

Lathosterolosis: An inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

Krakowiak, P. A., Wassif, C. A., Kratz, L., Cozma, D., Kovářová, M., Harris, G., Grinberg, A., Yang, Y., Hunter, A. G. W., Tsokos, M., Kelley, R. I. & Porter, F. D., Jul 1 2003, In : Human Molecular Genetics. 12, 13, p. 1631-1641 11 p.

Research output: Contribution to journalArticle

Cholesterol
Micrognathism
Smith-Lemli-Opitz Syndrome
Mucolipidoses
Hedgehogs

Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge

Kwiterovich, P. O., Chen, S. C., Virgil, D. G., Schweitzer, A., Arnold, D. R. & Kratz, L., Jun 2003, In : Journal of Lipid Research. 44, 6, p. 1143-1155 13 p.

Research output: Contribution to journalArticle

Phytosterols
Fat-Restricted Diet
Heterozygote
Nutrition
Esters
2002

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Kelley, R. I., Kratz, L., Glaser, R. L., Netzloff, M. L., Wolf, L. M. & Jabs, E. W., Jun 15 2002, In : American Journal of Medical Genetics. 110, 2, p. 95-102 8 p.

Research output: Contribution to journalArticle

Antley-Bixler Syndrome Phenotype
Disorders of Sex Development
Sterols
14-alpha Demethylase Inhibitors
Sterol 14-Demethylase

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

Andersson, H. C., Kratz, L. & Kelley, R., Dec 15 2002, In : American Journal of Medical Genetics. 113, 4, p. 315-319 5 p.

Research output: Contribution to journalArticle

Desmosterol
Cholesterol
Sterols
Micrognathism
Oxidoreductases
2001

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

Wassif, C. A., Zhu, P., Kratz, L., Krakowiak, P. A., Battaile, K. P., Weight, F. F., Grinberg, A., Steiner, R. D., Nwokoro, N. A., Kelley, R. I., Stewart, R. R. & Porter, F. D., Mar 15 2001, In : Human Molecular Genetics. 10, 6, p. 555-564 10 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Genetic Models
Intellectual Disability
Oxidoreductases
Cholesterol

Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome

Shackleton, C. H. L., Roitman, E., Kratz, L. & Kelley, R., 2001, In : Prenatal Diagnosis. 21, 3, p. 207-212 6 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Prenatal Diagnosis
Urine
Mothers
Serum

Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

Kumada, S., Hayashi, M., Kenmochi, J., Kurosawa, S., Shimozawa, N., Kratz, L., Kelley, R. I., Taki, K. & Okaniwa, M., Jan 22 2001, In : American Journal of Medical Genetics. 98, 3, p. 250-255 6 p.

Research output: Contribution to journalArticle

Rhizomelic Chondrodysplasia Punctata
Chondrodysplasia Punctata
Plasmalogens
Enchondromatosis
Fibroblasts
2000

CHILD syndrome caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7- isomerase

Grange, D. K., Kratz, L., Braverman, N. E. & Kelley, R. I., 2000, In : American Journal of Medical Genetics. 90, 4, p. 328-335 8 p.

Research output: Contribution to journalArticle

Hydroxysteroids
Ichthyosis
Isomerases
Extremities
Chondrodysplasia Punctata

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome

Nowaczyk, M. J. M., Heshka, T., Kratz, L. & Kelley, R. E., Dec 11 2000, In : American Journal of Medical Genetics. 95, 4, p. 396-398 3 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Prenatal Diagnosis
Fetus
Chorionic Villi
Sterols
1999

Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

Kelley, R. I., Wilcox, W. G., Smith, M., Kratz, L., Moser, A. B. & Rimoin, D. S., Mar 19 1999, In : American Journal of Medical Genetics. 83, 3, p. 213-219 7 p.

Research output: Contribution to journalArticle

Chondrodysplasia Punctata
Sterols
Hydroxysteroids
Isomerases
Inborn Genetic Diseases

Equine type estrogens produced by a pregnant woman carrying a Smith- Lemli-Opitz syndrome fetus

Shackleton, C. H. L., Roitman, E., Kratz, L. & Kelley, R. I., 1999, In : Journal of Clinical Endocrinology and Metabolism. 84, 3, p. 1157-1159 3 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Estriol
Horses
Pregnant Women
Estrogens
Chondrodysplasia Punctata
Medical Genetics
Sterols

Midgestational maternal urine steroid markers of fetal Smith-Lemli- Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)

Shackleton, C. H. L., Roitman, E., Kratz, L. & Kelley, R. I., Jul 1999, In : Steroids. 64, 7, p. 446-452 7 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Oxidoreductases
Steroids
Mothers
Urine

Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A. B., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I. & Valle, D., Jul 1999, In : Nature Genetics. 22, 3, p. 291-294 4 p.

Research output: Contribution to journalArticle

Chondrodysplasia Punctata
Hydroxysteroids
Isomerases
Mutation
Genes

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome

Kratz, L. & Kelley, R. I., Feb 19 1999, In : American Journal of Medical Genetics. 82, 5, p. 376-381 6 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Prenatal Diagnosis
Mothers
Amniotic Fluid
Chorionic Villi
1997

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli- Opitz syndrome and abnormal cholesterol metabolism

Cunniff, C., Kratz, L., Moser, A. B., Natowicz, M. R. & Kelley, R. I., 1997, In : American Journal of Medical Genetics. 68, 3, p. 263-269 7 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Cholesterol
Syndactyly
Toes
Holoprosencephaly
1995

3-methylglutaconic acidemia in smith-lemli-opitz syndrome

Kelley, R. I. & Kratz, L., 1995, In : Pediatric Research. 37, 5, p. 671-674 4 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Terpenes
Sterols
Mevalonic Acid
Leucine

Cloning of glutaryl-coa dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

I.goodman, S., Kratz, L., Digiulio, K. A., Biery, B. J., Goodman, K. E., Isaya, G. & Frerman, F. E., Sep 1995, In : Human Molecular Genetics. 4, 9, p. 1493-1498 6 p.

Research output: Contribution to journalArticle

Glutaryl-CoA Dehydrogenase
Cloning
CDNA
Mutant
Escherichia coli