StephenKahlerMD

PubMed

• 1 citations
  "Exogenous" 5 Alpha Reductase Deficiency: A Case Report.
  Brittany Levy, Seth Teplitsky, Evangelia Kalaitzoglou, Stephen Kahler, Juliann Paige Matheny
  Urology. 2023-08-01
• 13 citations
  Inheritance of HLA-Cw7 Associated With Autism Spectrum Disorder (ASD).
  Terry Harville, Bobbie Rhodes-Clark, Sirish C. Bennuri, Leanna Delhey, John Slattery
  Frontiers in Psychiatry. 2019-09-11
• 42 citations
  Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Priya S. Kishnani, Jennifer L. Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach
  Genetics in Medicine. 2019-01-19

Journal Articles

• ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons  
  May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, et al., Hum Mol Genet, 1/1/2015
• Mitochondrial Medicine Society Clinical Directors Working Group; Clinical Director's WorkGroup Practice patterns of mitochondrial disease physicians in North America P...  
  Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrion, 1/1/2013
• Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome  
  Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG, Am J Med Genet A, 1/1/2012
• Autism and environmental genomics  
  Herbert MR, Russo JP, Yang S, Roohi J, Blaxill M, Kahler SG, Cremer L, Hatchwell E, Neurotoxicology, 1/1/2006
• Metabolic disorders and mental retardation  
  Kahler SG, Fahey MC, Am J Med Genet C Semin Med Genet, 1/1/2003
• Parents' experiences with genetic counseling after the birth of a baby with a genetic disorder: an exploratory study  
  Collins V, Halliday J, Williamson R, Journal of Genetic Counseling, 1/1/2001
• Acute hydrocephalus in nonketotic hyperglycemia  
  Van Hove JL, Kishnani PS, Demaerel P, Kahler SG, Miller C, Jaeken J, Rutledge SL, Neurology, 1/1/2000
• Galactosaemia in Chinese  
  Kahler SG, J Paediatr Child Health, 1/1/1999
• Acute hydrocephalus in nonketotic hyperglycinemia  
  Ahmad A, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL, Neurology, 1/1/1999
• A case of duplication of 13q32-->qter and deletion of 18p1132-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited  
  Helali N, Iafolla AK, Qumsiyeh MB, J Med Genet, 1/1/1996
• epsilon-Aminocaproic acid-associated myopathy in a child  
  Winter SS, Chaffee S, Kahler SG, Graham ML, J Pediatr Hematol Oncol, 1/1/1995
• Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients  
  Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Pediatr Pathol Lab Med, 1/1/1995
• Book Review: The Genetic Basis of Common Diseases, Oxford Monographs on Medical Genetics, vol 20, (King, RA, Rotter, JI, Motulsky, A Oxford University Press, 1992)  
  Kahler SG, JAMA, 1/1/1993
• Book Review: Atlas of Clinical Syndromes, (Wiedemann HR, Kuntze, J, Grosse, F-R, and Dibbern H St Louis Mosby-Year Book, 1989)  
  Kahler SG, JAMA, 1/1/1993
• Fetal biometry in the Brachmann-de Lange syndrome  
  Kliewer MA, Hertzberg BS, Bowie JD, Am J Med Genet, 1/1/1993
• Unbalanced translocation 46,XY,-15, +der(22)t(15;22)(q13;q11)pat: case report and review of the literature  
  Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT, Jr., Hennessy MD, Am J Med Genet, 1/1/1992
• Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency  
  Iafolla AK, Chen YT, J Pediatr, 1/1/1992
• Brain abscess in glycogen storage disease type Ib  
  Park HK, Chen YT, Acta Paediatr Scand, 1/1/1991
• Medical research and a tuberous sclerosis support group  
  Murphy DF, Kahler SG, Ann N Y Acad Sci, 1/1/1991
• Book Review: The Metabolic Basis of Inherited Disease, 6th ed (Scriver, CR, Beaudet, AL, Sly, WS, and Valle, D, eds New York, McGraw-Hill, 1989)  
  Kahler SG, N Engl J Med, 1/1/1991
• Neural tube defects in trisomy 18  
  Flannery DB, Kahler SG, Prenat Diagn, 1/1/1986
• Hypophosphatemic rickets: still misdiagnosed and inadequately treated  
  Greene WB, Kahler SG, South Med J, 1/1/1985
• Surgical aspects of limb deformity in hypophosphatemic rickets  
  Greene WB, Kahler SG, South Med J, 1/1/1985
• Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency  
  Roe CR, Millington DS, Maltby DA, Bohan TP, Chalmers RA, Pediatr Res, 1/1/1985
• Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency  
  Robinson BH, Taylor J, Kirkman HN, Eur J Pediatr, 1/1/1981
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Books/Book Chapters

• Inherited Metabolic Diseases 
  Chapter: Approach to the Patient with Cardiovascular Disease 
  Kreuder J, Kahler SGEditors: Hoffmann GF, Zschocke J, Nyhan WL.Springer, Heidelberg2010
• Inherited Metabolic Diseases 
  Chapter: Gastrointestinal and General Abdominal Symptoms 
  Kahler SGEditors: Hoffmann GF, Zschocke J, Nyhan WL.Springer, Heidelberg2010
• Inherited Metabolic Diseases 
  Chapter: Metabolic Myopathies 
  Kahler SGEditors: Hoffmann GF, Zschocke J, Nyhan WL.Springer, Heidelberg2010
• Oski’s Pediatrics: Principles and Practice 
  Chapter: Newborn Screening 
  Kahler, S.G.Editors: J.A. McMillan, C.D. DeAngelis, R.D. Feigin, and J.B. Warshaw.Lippincott Williams and Wilkins, PhiladelphiaEdition 4th,2006
• Pediatric Handbook (Royal Children’s Hospital, Melbourne, VIC) 
  Chapter: Metabolic Conditions (including hypoglycaemia) 
  Boneh, A., Price, G., Kahler, S.G., and Werther, G.Editors: Georgia Paxton, Jane Munro and Dominic Wilkinson.Blackwell Science, Carlton South, Victoria, AustraliaEdition 7th,2005
• Rudolph’s Pediatrics 
  Chapter: Inherited Metabolic Disorders with Dysmorphic Features 
  Peters, H. L. and Kahler, S.G.Editors: C.D. Rudolph, A.M. Rudolph, M.K.Hostetter, G. Lister, and N.J. Siegel.McGraw-Hill, New YorkEdition 21st,2003
• Inherited Metabolic Diseases 
  Hoffmann GF, Nyhan WL, Zschocke J, Kahler SG, Mayatepek ELippincott Williams & Wilkins, Philadelphia2002
• Pediatric Handbook (Royal Children’s Hospital, Melbourne, VIC) 
  Chapter: Metabolic Conditions 
  Boneh, A. and Kahler, S.G.Editors: J. Smart and T. Nolan.Blackwell Science Asia, Carlton South, Victoria, AustraliaEdition 6th,2000
• The Epilepsies. Etiologies and Prevention 
  Chapter: Chapter 59: Neonatal Metabolic Disorders 
  Kahler, S.G.Editors: P. Kotagal and H.O.Luders.Academic Press, San Diego1999
• Inborn Errors of Metabolism 
  Chapter: Carnitine and the organic acidurias 
  Roe, C.R., Millington, D.S., Kahler, S.G., Kodo, N., Norwood, D.L.Editors: J. Schaub, F. Van Hoof and H.L. Vis.Raven Press, N.Y.1991
• Treatment of Genetic Diseases 
  Chapter: Chapter 4: Therapeutic Applications of L-Carnitine in Metabolic Disorders 
  Roe, C.R., Millington, D.S., Kahler, S.G., Kodo, N., Norwood, D.L.Editors: R.J. Desnick.Churchill Livingstone Inc., New York1991
• Birth Defects Encyclopedia 
  Chapter: Osteoporosis, mild recessive 
  Kahler, S.G.Editors: M.L. Buyse.Blackwell Scientific Publica­tions, Cambridge, MA1990
• Birth Defects Encyclopedia 
  Chapter: Adenylosuccinate Monophophate Lyase Deficiency 
  Kahler, S.G.Editors: M.L. Buyse.Blackwell Scientific Publica­tions, Cambridge, MA1990
• Enzymes of Fatty Acid Oxidation and Their Genetic Defects 
  Chapter: Carnitine homeostasis in the organic acidurias 
  Roe, C.R., Millington, D.S., Kahler S.G., Kodo, N., Norwood, D.L.Editors: P. Coates and K. Tanaka.Alan R. Liss, Inc., N.Y.1990
• Pediatric Neurology 
  Chapter: Chapter 9: Inherited Metabolic Diseases of the Nervous System 
  Greenwood, R.S., Kahler, S.G. and Aylsworth, A.S.Editors: Farmer, T.Harper & Row, BaltimoreEdition 3rd,1983
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Abstracts/Posters

• Second family with multiple congenital anomalies-hypotonia-seizures syndrome 3 due to mutations in PIGT: A report of a newly described disorder of glycosylation
  Danylchuk, N.R., Lam, C., Wolfe, L., Golas, G., Krasnewich, D., Zein, W.M., Adams, D., Gahl, W., Kahler, S.G., Garnica, A.D., Schaefer, G.B., American College of Medical Genetics annual meeting, Salt Lake City, 1/24/2015
• Analysis of urinary organic acids by GC tandem mass spectrometry for the accurate diagnosis of inborn errors of metabolism
  Bates-Dubrow, L.G., Soderberg, F.B., Wheat, A.G., Whittecar, P., Daniel, A., Sparks, C., Wheat, L., Permenter, J., American Society of Mass Spectrometry annual meeting, Las Vegas, 1/1/2010
• Accurate mouse models for methylmalonic aciduria
  Peters, H., Nefedov, M., Sarsero, J., Pitt, J., Gazeas, S., Voulaire, L., Fowler, K., Kahler, S., Ioannou, P, IXth International Congress on Inborn Errors of Metabolism, Brisbane, Australia, 1/2/2006
• Peptiduria in autism and related disorders: An exploratory study
  Cooper, E., Gaylor, D., American Society of Human Genetics 55th annual meeting, Salt Lake City, 1/26/2005
• Genome-wide SNP chip homozygosity mapping defines critical region for Native American Myopathy
  Stamm, D., Powell, C., Kahler, S., Aylsworth, A., Deak, K., West, S., Craig, D., Lince, D., Stephan, D., Gilbert, J., Speer, M., American Society of Human Genetics 55th annual meeting, Salt Lake City, 1/26/2005
• Autism and Environmental Genomics
  Herbert M.R., Russo, J.R., Blaxill, M., Kahler, S.G., Ziegler, D.A., Hatchwell, E., International Meeting for Autism Research (IMFAR), Boston, 1/5/2005
• Peptiduria in autism and related disorders: An exploratory study
  Kahler, S.G., Cooper, E, American College of Medical Genetics annual meeting; International Meeting for Autism Research (IMFAR), Dallas, 2005; Boston, 2005, 1/5/2005
• Dystrophic calcification of the fetal myocardium
  Rowlands S, Sampson A, International Society for Ultrasound in Obstetrics and Gynecology, 1/1/2001
• Molecular characterisation of mutase-deficient methylmalonic aciduria
  Peters, H., Kahler, S., Nefedov, M., Ioannou, P, VIII International Congress of Inborn Errors of Metabolism, Cambridge, UK, 1/13/2000
• Genotype-phenotype correlation in a Samoan patient with biotin-resistant multiple carboxylase deficiency
  Peters, H., Zammarchi, E., Malvagia, S., Morrone, A., Craig, J., Kahler, S., Boneh, A., VIII International Congress of Inborn Errors of Metabolism, Cambridge, UK, 1/13/2000
• Tandem mass spectrometry and the clinician
  Van Hove, J.L.K., Millington, D.S., Australasian Society for Inborn Errors of Metabolism, 12th annual meeting, Melbourne, 1/8/1998
• MCAD deficiency: asymptomatic A985G homozygosity and pregnancy loss
  Hart, K., Kahler, S., Ding, J.-H., Roe, C., Andresen, B., Gregersen, N., and Packman, S., American Society of Human Genetics, San Francisco, CA, 1/29/1996
• Abnormal genital development in XY neonates associated with severe placental insufficiency and chronic intrauterince growth restriction
  Nesbitt, T.H., Bodine, C.L., Kahler, S.G., and Decker-Phillips, M., 46th annual meeting, American Society of Human Genetics, San Francisco, CA, 1/29/1996
• Microscopically visible deletion of chromosome 7 in child with features of the Williams syndrome
  Kahler, S.G., Adhvaryu, S.G., Helali, N., and Qumsiyeh, M.B., 16th David W. Smith Workshop on Malformations and Morphogenesis, Big Sky, MT, 1/30/1995
• Balanced translocations and congenital anomalies revisited
  Qumsiyeh, M.B., DeLong, R., Freemark, M., Kahler, S.G., and Adhvaryu, S.G., 45th annual meeting, American Society of Human Genetics, Minneapolis, MN, 1/24/1995
• Microscopically visible deletion of chromosome 7 in a child with features of Williams syndrome
  Adhvaryu, S.G., Helali, N., and Qumsiyeh, M.B., 45th annual meeting, American Society of Human Genetics, Minneapolis, MN, 1/24/1995
• The cost of having medium-chain acyl-CoA dehydrogenase deficiency
  Kahler, S.G. and Ciccolella, J., 33rd annual meeting, Society for the Study of Inborn Errors of Metabolism (SSIEM), Toledo, Spain, 1/12/1995
• Carnitine acylcarnitine translocase deficiency: Benign course without cardiac involvement
  Dionisi-Vici C., Garavaglia G., Bandle A., Invermizzi F., DiDonato S., Sabetta G., Kahler, S.G., Millington, D.S., APS-SPR meeting, 1/1/1995
• Glycogen storage in Niemann-Pick disease type I-S
  Kahler, S.G., Milov, D.J., and Chen, Y.-T., VIth International Congress of Inborn Errors of Metabolism, Milano, Italy, 1/27/1994
• Severe infantile lactic acidosis and pancreatitis in a boy heteroplasmic for mt3243 (tRNALeu) mutation
  Kahler, S.G., Kishnani, P., Helali, A., and Riel, R., American Society of Human Genetics, Montreal, P.Q., Canada, 1/18/1994
• Hemangioma, supraumbilical midline raphe, and coarctation of right aortic arch: A continuous spectrum?
  Kishnani, P., Iafolla, A.K., McConkie-Rosell, A., Van Hove, J., 15th David W. Smith Workshop on Malformations and Morphogenesis, Tampa, FL, 1/4/1994
• Skeletal dysplasias and immune deficiency
  Kahler, S.G., and Schiff, R.I., 15th David W. Smith Workshop on Malformations and Morphogenesis, Tampa, FL, 1/4/1994
• New diagnostic findings in carboyhdrate-deficient glycoprotein syndrome
  Harrison, H., Baron, B., Horwitz, A., Macchia, P., Refetoff, S., Scherberg, N., Harbison, M., Slonim, A., Natowicz, M., Lafayette, D., van Hove, J., Society for Inherited Metabolic Diseases, Pacific Grove, California, 1/14/1993
• Cardiac glycogen storage disease with encephalopathy
  Kishnani, P., Van Hove, J., Chen, Y.-T., Steenbergen, C., O’Brien, T., May, W., Ward, J., Society for Inherited Metabolic Diseases, Pacific Grove, California, 1/14/1993
• Reliable diagnosis of medium-chain acyl-coA dehydrogenase deficiency by acylcarnitine profiles of blood
  Van Hove, J.L.K., Terada, N., Chace, D.H., Zang, W., Kahler, S.G., Roe, C.R., Iafolla, A.K., Millington, D.S., Southern Genetics Group, Destin, FL, 1/9/1992
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Lectures

• Metabolic Unknowns 
  Nashville, TN, 2007; Albuquerque, 2010 - 1/25/2010
• Metabolic and Genetic aspects of autism 
  Dallas, TX - 1/1/2010
• Some Metabolic Aspects of Autism Spectrum Disorders 
  UAMS, 2009; Albuquerque, 2010 - 1/1/2010
• Newborn Screening 
  Multiple Locations 2004, 2005 - 1/28/2006
• A Biochemical Geneticist Looks at Autism 
  Multiple Locations, 1998, 1999, 2005 - 1/9/2006
• New Developments in Lysosomal Storage Diseases 
  Rijkshospitalet, Oslo - 1/15/2005
• Genes and Development 
  University of Maryland - 1/7/2005
• What’s new in newborn screening? 
  Arnold Palmer Children’s Hospital, Orlando, FL. - 1/2/2005
• What’s new in newborn screening 
  Union Memorial Hospital, Baltimore, MD - 1/19/2004
• A 37-year-old woman with diarrhea and peripheral neuropathy (Fabry disease) 
  Johns Hopkins Hospital - 1/6/2004
• Update on Newborn Screening 
  1/2/2003
• It’s in your genes 
  LaTrobe University, Melbourne, VIC - 1/22/2002
• Biochemical Aspects of Autism 
  Wellington, NZ - 1/6/2000
• Genetics and Aging 
  Sydney - 1/6/1999
• Dysmorphology 
  1/17/1998
• Tandem Mass Spectrometry 
  1/8/1998
• Genetic and Metabolic Cardiomyopathies 
  Perth, Western Australia - 1/2/1998
• Neonatal seizures due to amino acid and organic acid disorders 
  1/12/1996
• Defeat Autism Now! (DAN!) 
  Dallas - 1/20/1995
• Origin and Consequences of Deleterious Human Genes 
  Raleigh, NC - 1/23/1994
• New Myopathy with Cleft Palate and Malignant Hyperthermia 
  University of North Carolina Hospitals - 1/19/1994
• David W. Smith Workshop on Malformations and Morphogenesis 
  Tampa, FL - 1/1/1994
• Marfan Syndrome 
  Duke - 1/1/1994
• Inborn Errors and Malformations 
  University of North Carolina - 1/1/1994
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Other

• Metabolic Disorders Associated with Neonatal Hypoglycemia 
  Kahler SG, NeoReviews
  1/1/2004