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Andreas Schulze

TitleSection Head, Genetic Metabolic Diseases Program Medical Directo
InstitutionThe Hospital for Sick Children
DepartmentClinical and Metabolic Genetics
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 Apr 24. PMID: 31018246.
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    2. Coles N, Comeau I, Munoz T, Harrington J, Mendoza-Londono R, Schulze A, Kives S, Kamath BM, Hamilton J. Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome J Clin Res Pediatr Endocrinol. 2019 02 20; 11(1):100-103. PMID: 29991465.
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    3. Hannah-Shmouni F, Cruz V, Schulze A, Mercimek-Andrews S. Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. Am J Med Genet A. 2018 06; 176(6):1411-1415. PMID: 29663633.
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    4. Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S. Treatment outcome of creatine transporter deficiency: international retrospective cohort study. Metab Brain Dis. 2018 06; 33(3):875-884. PMID: 29435807.
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    5. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
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    6. Cameron JM, Levandovskiy V, Roberts W, Anagnostou E, Scherer S, Loh A, Schulze A. Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder. Int J Mol Sci. 2017 Jul 31; 18(8). PMID: 28758966.
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    7. Miscevic F, Foong J, Schmitt B, Blaser S, Brudno M, Schulze A. An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool. Mol Genet Metab. 2016 12; 119(4):300-306. PMID: 27847299.
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    8. Tkachyova I, Fan X, LamHonWah AM, Fedyshyn B, Tein I, Mahuran DJ, Schulze A. NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders. PLoS One. 2016; 11(9):e0162145. PMID: 27657498.
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    9. Schulze A, Tran C, Levandovskiy V, Patel V, Cortez MA. Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice. Amino Acids. 2016 08; 48(8):2041-7. PMID: 26898547.
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    10. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13; 1. PMID: 28567303.
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    11. Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism. Pediatrics. 2016 Jan; 137(1). PMID: 26684475.
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    12. Braczynski AK, Vlaho S, Müller K, Wittig I, Blank AE, Tews DS, Drott U, Kleinle S, Abicht A, Horvath R, Plate KH, Stenzel W, Goebel HH, Schulze A, Harter PN, Kieslich M, Mittelbronn M. ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. Biomed Res Int. 2015; 2015:462592. PMID: 26550569.
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    13. Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA. Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). Mol Genet Metab. 2015 Nov; 116(3):146-51. PMID: 26361991.
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    14. Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis. 2015 Aug 20; 10:99. PMID: 26289392.
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    15. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. PMID: 26296711.
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    16. Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Eur J Paediatr Neurol. 2015 Sep; 19(5):525-32. PMID: 26008862.
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    17. Teodoro-Morrison T, Kyriakopoulou L, Chen YK, Raizman JE, Bevilacqua V, Chan MK, Wan B, Yazdanpanah M, Schulze A, Adeli K. Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children. Clin Biochem. 2015 Sep; 48(13-14):828-36. PMID: 25977068.
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    18. Ballantyne LL, Sin YY, St Amand T, Si J, Goossens S, Haenebalcke L, Haigh JJ, Kyriakopoulou L, Schulze A, Funk CD. Strategies to rescue the consequences of inducible arginase-1 deficiency in mice. PLoS One. 2015; 10(5):e0125967. PMID: 25938595.
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    19. Mørkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P. Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals. Clin Chem. 2015 May; 61(5):760-8. PMID: 25759465.
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    20. Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. Orphanet J Rare Dis. 2015 Feb 08; 10:12. PMID: 25758715.
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    21. Trang H, Stanley SY, Thorner P, Faghfoury H, Schulze A, Hawkins C, Pearson CE, Yoon G. Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7. JAMA Neurol. 2015 Feb; 72(2):219-23. PMID: 25506882.
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    22. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8. PMID: 25503497.
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    23. Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Mol Genet Metab. 2014 Nov; 113(3):171-6. PMID: 25266922.
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    24. Tran C, Yazdanpanah M, Kyriakopoulou L, Levandovskiy V, Zahid H, Naufer A, Isbrandt D, Schulze A. Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency. Clin Chim Acta. 2014 Sep 25; 436:160-8. PMID: 24877651.
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    25. Haas D, Gan-Schreier H, Langhans CD, Anninos A, Haege G, Burgard P, Schulze A, Hoffmann GF, Okun JG. Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF. Gene. 2014 Mar 15; 538(1):188-94. PMID: 24440240.
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    26. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. PMID: 24268530.
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    27. Sin YY, Ballantyne LL, Mukherjee K, St Amand T, Kyriakopoulou L, Schulze A, Funk CD. Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. PLoS One. 2013; 8(11):e80001. PMID: 24224027.
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    28. Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI. Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). Pediatr Radiol. 2014 Feb; 44(2):222-5. PMID: 24037084.
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    29. El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab. 2013 Jun; 109(2):215-7. PMID: 23583224.
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    30. Schulze A. Creatine deficiency syndromes. Handb Clin Neurol. 2013; 113:1837-43. PMID: 23622406.
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    31. Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Mol Genet Metab. 2013 Jan; 108(1):40-50. PMID: 23266196.
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    32. Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A. Transient fulminant liver failure as an initial presentation in citrullinemia type I. Mol Genet Metab. 2011 Apr; 102(4):413-7. PMID: 21227727.
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    33. Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Mitochondrion. 2011 Jan; 11(1):191-9. PMID: 20920610.
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    34. Fernández-Irigoyen J, Santamaría E, Chien YH, Hwu WL, Korman SH, Faghfoury H, Schulze A, Hoganson GE, Stabler SP, Allen RH, Wagner C, Mudd SH, Corrales FJ. Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):172-7. PMID: 20675163.
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    35. Barnett CP, Lam WC, Schulze A. Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophy. J Inherit Metab Dis. 2009 Oct; 32(5):670. PMID: 19757146.
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    36. Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet. 2009 Apr; 125(3):319-26. PMID: 19184109.
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    37. Verbruggen KT, Sijens PE, Schulze A, Lunsing RJ, Jakobs C, Salomons GS, van Spronsen FJ. Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. Mol Genet Metab. 2007 Jul; 91(3):294-6. PMID: 17466557.
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    38. Schulze A, Battini R. Pre-symptomatic treatment of creatine biosynthesis defects. Subcell Biochem. 2007; 46:167-81. PMID: 18652077.
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    39. Wyss M, Braissant O, Pischel I, Salomons GS, Schulze A, Stockler S, Wallimann T. Creatine and creatine kinase in health and disease--a bright future ahead? Subcell Biochem. 2007; 46:309-34. PMID: 18652084.
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    40. Werner T, Treiss I, Kohlmueller D, Mehlem P, Teich M, Longin E, Gerstner T, Koenig SA, Schulze A. Effects of valproate on acylcarnitines in children with epilepsy using ESI-MS/MS. Epilepsia. 2007 Jan; 48(1):72-6. PMID: 17241210.
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    41. Fukao T, Sakurai S, Rolland MO, Zabot MT, Schulze A, Yamada K, Kondo N. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. Mol Genet Metab. 2006 Nov; 89(3):280-2. PMID: 16765626.
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    42. Jansen EE, Verhoeven NM, Jakobs C, Schulze A, Senephansiri H, Gupta M, Snead OC, Gibson KM. Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency. Biochim Biophys Acta. 2006 Apr; 1762(4):494-8. PMID: 16504488.
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    43. Schulze A, Schmidt C, Kohlmüller D, Hoffmann GF, Mayatepek E. Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation. Clin Chim Acta. 2003 Sep; 335(1-2):137-45. PMID: 12927695.
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    44. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics. 2003 Jun; 111(6 Pt 1):1399-406. PMID: 12777559.
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    45. Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol. 2003 Feb; 53(2):248-51. PMID: 12557293.
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    46. Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb; 244(1-2):143-50. PMID: 12701824.
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    47. Meyburg J, Schulze A, Kohlmueller D, Pöschl J, Linderkamp O, Hoffmann GF, Mayatepek E. Acylcarnitine profiles of preterm infants over the first four weeks of life. Pediatr Res. 2002 Nov; 52(5):720-3. PMID: 12409519.
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    48. Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta. 2002 Oct 10; 1584(2-3):91-8. PMID: 12385891.
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    49. Item CB, Stromberger C, Mühl A, Edlinger C, Bodamer OA, Schulze A, Surtees R, Leuzzi V, Salomons GS, Jakobs C, Stöckler-Ipsiroglu S. Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem. 2002 May; 48(5):767-9. PMID: 11978605.
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    50. Schulze A, Mayatepek E, Hoffmann GF. Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. Clin Chim Acta. 2002 Mar; 317(1-2):27-37. PMID: 11814455.
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