Helge Rootwelt

  • Chief Consultant; MD, PhD
  • +47 230 70 922


  • 1995: PhD (Dr. med.), University of Oslo, Norway
  • 1985: Medical Doctor (Cand. med.), University of Oslo, Norway


Research Summary

Doctoral thesis "Studies on the molecular Genetics of tyrosinaemia type I" defended Oct 24th, 1995.

Main research interests are Inborn Errors of Metabolism (IEM), Genetic analyses primarily using DNA sequencing, in vitro mutagenesis and gene expression and allele detection using real time PCR analyses in relation to IEM, pharmacogenetics, cognitive function and melanomas and other disorders.

Main focus since 2014 is Metabolomics and Lipidomics using Liquid Chromatography and High Resolution Mass Spectrometry analyses to establish a robust platform for research, diagnostics and personalized medicine using metabolomics and lipidomics in collaborative clinical studies with experts in the relevant fields and to provide more precise diagnoses, to aid selection of more targeted treatment options and to monitor treatment effects and adherence to the treatment instituted.

Work Experience

  • Nov 1996-to date: Oslo University Hospital - Rikshospitalet, Oslo, Norway
  • 1996 Aug-Nov: Sonja Henie’s Medical Center, Oslo, Norway
  • Aug 1988-Jul 1996: Oslo University Hospital - Rikshospitalet, Oslo, Norway
  • Nov 1987-July 1988: Military physician in His Majesty the King’s Guard, Norway
  • 1987 Jan-July: Municipality of Meløy, Norway
  • Jan 1986-Jan 1987: Nordland sentralsykehus, Norway

– Teacher of medicine at the Faculty of Medicine, Oslo University and Oslo Metropolitan University in periods.

– Supervisor of Bachelor, Master and PhD students at the University of Oslo and Oslo Metropolitan University.

– Board Member and Chairman of national and nordic societies in Medical Biochemistry and Clinical Chemistry for periods of time.

– Acting Head of Department and Section leader for periods of time at Department of Clinical Chemistry, Rikshospitalet University Hospital and Department of Medical Biochemistry, Oslo University Hospital for periods of time.


NB: Check out our NEWS PAGE and Photo Gallery for the latest!


Publications 2024

Gundersen M, Jensen P, Nilsen C, Yazdani M, Utheim Ø, Sandås EM, Rootwelt H, Gundersen KG, Elgstøen KBP (2024)
Method Development for Omics Analyses using Schirmer Strips
Curr Eye Res, 1-9 (in press)
DOI 10.1080/02713683.2024.2335271, PubMed 38567868

Nicolaysen TV, Rørtveit R, Vassli AØ, Sand ES, Elgstøen KBP, Rootwelt H, Lund HS, Sævik BK, Zimmer KE (2024)
A longitudinal study of the blood and urine metabolome of Vipera berus envenomated dogs
Res Vet Sci, 173, 105287
DOI 10.1016/j.rvsc.2024.105287, PubMed 38718545

Publications 2023

Farup PG, Rootwelt H, Hestad K (2023)
APOE Polymorphism Is Associated with Changes in the Kynurenine Pathway
Genes (Basel), 14 (10)
DOI 10.3390/genes14101955, PubMed 37895304

Fineide FA, Tashbayev B, Elgstøen KBP, Sandås EM, Rootwelt H, Hynne H, Chen X, Ræder S, Vehof J, Dartt D, Jensen JL, Utheim TP (2023)
Tear and Saliva Metabolomics in Evaporative Dry Eye Disease in Females
Metabolites, 13 (11)
DOI 10.3390/metabo13111125, PubMed 37999221

Hiller JK, Sandås EM, Rootwelt H, Østeby Vassli A, Utheim TP, Moe MC, Elgstøen KBP, Petrovski G (2023)
Ex Vivo Pig Eye Model for Studying Diffusion of Acylcarnitines with Different Physicochemical Properties
J Ocul Pharmacol Ther, 39 (5), 324-331
DOI 10.1089/jop.2022.0159, PubMed 37219540

Skogvold HB, Rootwelt H, Reubsaet L, Elgstøen KBP, Wilson SR (2023)
Dried blood spot analysis with liquid chromatography and mass spectrometry: Trends in clinical chemistry
J Sep Sci, 46 (15), e2300210
DOI 10.1002/jssc.202300210, PubMed 37269205

Skogvold HB, Wilson SRH, Rønning PO, Ferrante L, Opdal SH, Rognum TO, Rootwelt H, Elgstøen KBP (2023)
A global metabolomics minefield: Confounding effects of preanalytical factors when studying rare disorders
Anal Sci Adv, 4 (7-8), 255-266
DOI 10.1002/ansa.202300010, PubMed 38716308

Publications 2022

Böhm HO, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Rootwelt H, Skogvold HB, Brodtkorb E, Elgstøen KBP (2022)
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency
Int J Mol Sci, 23 (24)
DOI 10.3390/ijms232416061, PubMed 36555701

Dahlberg D, Rummel J, Distante S, De Souza GA, Stensland ME, Mariussen E, Rootwelt H, Voie Ø, Hassel B (2022)
Glioblastoma microenvironment contains multiple hormonal and non-hormonal growth-stimulating factors
Fluids Barriers CNS, 19 (1), 45
DOI 10.1186/s12987-022-00333-z, PubMed 35659255

Farup PG, Jansen A, Hestad K, Aaseth JO, Rootwelt H (2022)
APOE Polymorphism and Endocrine Functions in Subjects with Morbid Obesity Undergoing Bariatric Surgery
Genes (Basel), 13 (2)
DOI 10.3390/genes13020222, PubMed 35205269

Hestad K, Alexander J, Rootwelt H, Aaseth JO (2022)
The Role of Tryptophan Dysmetabolism and Quinolinic Acid in Depressive and Neurodegenerative Diseases
Biomolecules, 12 (7)
DOI 10.3390/biom12070998, PubMed 35883554

Hynne H, Sandås EM, Elgstøen KBP, Rootwelt H, Utheim TP, Galtung HK, Jensen JL (2022)
Saliva Metabolomics in Dry Mouth Patients with Head and Neck Cancer or Sjögren's Syndrome
Cells, 11 (3)
DOI 10.3390/cells11030323, PubMed 35159133

Opstad TB, Farup PG, Rootwelt H, Aaseth JO (2022)
Changes in circulating sirtuin 1 after bariatric surgery
Nutr Metab Cardiovasc Dis, 32 (12), 2858-2864
DOI 10.1016/j.numecd.2022.09.009, PubMed 36404480

Rootwelt H, Elgstøen KBP (2022)
Metabolomics - a new biochemical golden age for personalised medicine
Tidsskr Nor Laegeforen, 142 (6)
DOI 10.4045/tidsskr.22.0034, PubMed 35383452

Aaseth JO, Rootwelt H, Retterstøl K, Hestad K, Farup PG (2022)
Circulating Lipoproteins in Subjects with Morbid Obesity Undergoing Bariatric Surgery with Gastric Bypass or Sleeve Gastrectomy
Nutrients, 14 (12)
DOI 10.3390/nu14122381, PubMed 35745111

Aaseth JO, Rootwelt H, Retterstøl K, Hestad K, Farup PG (2022)
Reply to Paredes et al. Comment on "Aaseth et al. Circulating Lipoproteins in Subjects with Morbid Obesity Undergoing Bariatric Surgery with Gastric Bypass or Sleeve Gastrectomy. Nutrients 2022, 14, 2381"
Nutrients, 15 (1)
DOI 10.3390/nu15010053, PubMed 36615711

Publications 2021

Bendiksen Skogvold H, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Haarr D, Rootwelt H, Elgstøen KBP (2021)
A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics
J Appl Toxicol, 42 (5), 818-829
DOI 10.1002/jat.4259, PubMed 34725838

Skogvold HB, Sandås EM, Østeby A, Løkken C, Rootwelt H, Rønning PO, Wilson SR, Elgstøen KBP (2021)
Bridging the Polar and Hydrophobic Metabolome in Single-Run Untargeted Liquid Chromatography-Mass Spectrometry Dried Blood Spot Metabolomics for Clinical Purposes
J Proteome Res, 20 (8), 4010-4021
DOI 10.1021/acs.jproteome.1c00326, PubMed 34296888

Wendel K, Pfeiffer HCV, Fugelseth DM, Nestaas E, Domellöf M, Skålhegg BS, Elgstøen KBP, Rootwelt H, Pettersen RD, Pripp AH, Stiris T, Moltu SJ, ImNuT Collaboration Group (2021)
Effects of nutrition therapy on growth, inflammation and metabolism in immature infants: a study protocol of a double-blind randomized controlled trial (ImNuT)
BMC Pediatr, 21 (1), 19
DOI 10.1186/s12887-020-02425-x, PubMed 33407269

Publications 2020

Farup PG, Rootwelt H, Hestad K (2020)
APOE - a genetic marker of comorbidity in subjects with morbid obesity
BMC Med Genet, 21 (1), 146
DOI 10.1186/s12881-020-01082-2, PubMed 32646381

Publications 2019

Yazdani M, Elgstøen KBP, Rootwelt H, Shahdadfar A, Utheim ØA, Utheim TP (2019)
Tear Metabolomics in Dry Eye Disease: A Review
Int J Mol Sci, 20 (15)
DOI 10.3390/ijms20153755, PubMed 31374809

Publications 2016

Bremer S, Bliksrud YT, Rootwelt H, Woldseth B, Tangeraas T, Saeves I, Watle SSV (2016)
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
DOI 10.1016/j.mgene.2016.02.004

Publications 2014

Vethe NT, Ali AM, Reine PA, Andersen AM, Bremer S, Line PD, Rootwelt H, Bergan S (2014)
Simultaneous quantification of IMPDH activity and purine bases in lymphocytes using LC-MS/MS: assessment of biomarker responses to mycophenolic acid
Ther Drug Monit, 36 (1), 108-18
DOI 10.1097/FTD.0b013e3182a13900, PubMed 24061448

Publications 2013

Backe PH, Ytre-Arne M, Røhr AK, Brodtkorb E, Fowler B, Rootwelt H, Bjørås M, Mørkrid L (2013)
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
JIMD Rep, 11, 79-85
DOI 10.1007/8904_2013_225, PubMed 23580368

Publications 2012

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H (2012)
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene
Scand J Clin Lab Invest, 72 (5), 369-73
DOI 10.3109/00365513.2012.676210, PubMed 22554029

Helsing P, Nymoen DA, Rootwelt H, Vårdal M, Akslen LA, Molven A, Andresen PA (2012)
MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas
Genes Chromosomes Cancer, 51 (7), 654-61
DOI 10.1002/gcc.21952, PubMed 22447455

Westlye LT, Reinvang I, Rootwelt H, Espeseth T (2012)
Effects of APOE on brain white matter microstructure in healthy adults
Neurology, 79 (19), 1961-9
DOI 10.1212/WNL.0b013e3182735c9c, PubMed 23100402

Publications 2011

Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, Mørkrid L (2011)
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
Mol Genet Metab, 104 (3), 289-94
DOI 10.1016/j.ymgme.2011.07.012, PubMed 21831683

Lillenes MS, Espeseth T, Støen M, Lundervold AJ, Frye SA, Rootwelt H, Reinvang I, Tønjum T (2011)
DNA base excision repair gene polymorphisms modulate human cognitive performance and decline during normal life span
Mech Ageing Dev, 132 (8-9), 449-58
DOI 10.1016/j.mad.2011.08.002, PubMed 21884718

Westlye ET, Lundervold A, Rootwelt H, Lundervold AJ, Westlye LT (2011)
Increased hippocampal default mode synchronization during rest in middle-aged and elderly APOE ε4 carriers: relationships with memory performance
J Neurosci, 31 (21), 7775-83
DOI 10.1523/JNEUROSCI.1230-11.2011, PubMed 21613490

Publications 2010

Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L (2010)
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
Mol Genet Metab, 100 (4), 324-32
DOI 10.1016/j.ymgme.2010.04.017, PubMed 20570198

Espeseth T, Sneve MH, Rootwelt H, Laeng B (2010)
Nicotinic receptor gene CHRNA4 interacts with processing load in attention
PLoS One, 5 (12), e14407
DOI 10.1371/journal.pone.0014407, PubMed 21203548

Espeseth T, Westlye LT, Walhovd KB, Fjell AM, Endestad T, Rootwelt H, Reinvang I (2010)
Apolipoprotein E ε4-related thickening of the cerebral cortex modulates selective attention
Neurobiol Aging, 33 (2), 304-322.e1
DOI 10.1016/j.neurobiolaging.2009.12.027, PubMed 20382449

Reinvang I, Lundervold AJ, Wehling E, Rootwelt H, Espeseth T (2010)
Epistasis between APOE and nicotinic receptor gene CHRNA4 in age related cognitive function and decline
J Int Neuropsychol Soc, 16 (3), 424-32
DOI 10.1017/S1355617710000263, PubMed 20331911

Solaas K, Legry V, Retterstol K, Berg PR, Holven KB, Ferrières J, Amouyel P, Lien S, Romeo J, Valtueña J, Widhalm K, Ruiz JR, Dallongeville J, Tonstad S, Rootwelt H, Halvorsen B, Nenseter MS, Birkeland KI, Thorsby PM, Meirhaeghe A, Nebb HI (2010)
Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe)
BMC Med Genet, 11, 144
DOI 10.1186/1471-2350-11-144, PubMed 20939869

Publications 2009

Bremer S, Vethe NT, Rootwelt H, Jørgensen PF, Stenstrøm J, Holdaas H, Midtvedt K, Bergan S (2009)
Mycophenolate pharmacokinetics and pharmacodynamics in belatacept treated renal allograft recipients - a pilot study
J Transl Med, 7, 64
DOI 10.1186/1479-5876-7-64, PubMed 19635156

Espeseth T, Rootwelt H, Reinvang I (2009)
Apolipoprotein E modulates auditory event-related potentials in healthy aging
Neurosci Lett, 459 (2), 91-5
DOI 10.1016/j.neulet.2009.04.053, PubMed 19409447

Reinvang I, Lundervold AJ, Rootwelt H, Wehling E, Espeseth T (2009)
Individual variation in a cholinergic receptor gene modulates attention
Neurosci Lett, 453 (3), 131-4
DOI 10.1016/j.neulet.2009.02.029, PubMed 19429020

Reinvang I, Winjevoll IL, Rootwelt H, Espeseth T (2009)
Working memory deficits in healthy APOE epsilon 4 carriers
Neuropsychologia, 48 (2), 566-73
DOI 10.1016/j.neuropsychologia.2009.10.018, PubMed 19879282

Ystad MA, Lundervold AJ, Wehling E, Espeseth T, Rootwelt H, Westlye LT, Andersson M, Adolfsdottir S, Geitung JT, Fjell AM, Reinvang I, Lundervold A (2009)
Hippocampal volumes are important predictors for memory function in elderly women
BMC Med Imaging, 9, 17
DOI 10.1186/1471-2342-9-17, PubMed 19698138

Publications 2008

Bremer S, Mandla R, Vethe NT, Rasmussen I, Rootwelt H, Line PD, Midtvedt K, Bergan S (2008)
Expression of IMPDH1 and IMPDH2 after transplantation and initiation of immunosuppression
Transplantation, 85 (1), 55-61
DOI 10.1097/01.tp.0000296854.68123.03, PubMed 18192912

Bremer S, Vethe NT, Rootwelt H, Bergan S (2008)
Expression of IMPDH1 is regulated in response to mycophenolate concentration
Int Immunopharmacol, 9 (2), 173-80
DOI 10.1016/j.intimp.2008.10.017, PubMed 19010451

Utheim ØA, Ritland JS, Utheim TP, Espeseth T, Lydersen S, Rootwelt H, Semb SO, Elsås T (2008)
Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration
Acta Ophthalmol, 86 (4), 401-3
DOI 10.1111/j.1600-0420.2007.01070.x, PubMed 18498549

Vethe NT, Bremer S, Rootwelt H, Bergan S (2008)
Pharmacodynamics of mycophenolic acid in CD4+ cells: a single-dose study of IMPDH and purine nucleotide responses in healthy individuals
Ther Drug Monit, 30 (6), 647-55
DOI 10.1097/FTD.0b013e31818955c3, PubMed 18806697

Publications 2007

Bremer S, Rootwelt H, Bergan S (2007)
Real-time PCR determination of IMPDH1 and IMPDH2 expression in blood cells
Clin Chem, 53 (6), 1023-9
DOI 10.1373/clinchem.2006.081968, PubMed 17463174

Espeseth T, Endestad T, Rootwelt H, Reinvang I (2007)
Nicotine receptor gene CHRNA4 modulates early event-related potentials in auditory and visual oddball target detection tasks
Neuroscience, 147 (4), 974-85
DOI 10.1016/j.neuroscience.2007.04.027, PubMed 17590520

Ritland JS, Utheim TP, Utheim OA, Espeseth T, Lydersen S, Semb SO, Rootwelt H, Elsås T (2007)
Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome
Acta Ophthalmol Scand, 85 (3), 257-61
DOI 10.1111/j.1600-0420.2006.00824.x, PubMed 17488453

Saether T, Tran TN, Rootwelt H, Grav HJ, Christophersen BO, Haugen TB (2007)
Essential fatty acid deficiency induces fatty acid desaturase expression in rat epididymis, but not in testis
Reproduction, 133 (2), 467-77
DOI 10.1530/REP-06-00294, PubMed 17307914

Publications 2006

Bergan S, Rootwelt H (2006)
[Customized drugs?]
Tidsskr Nor Laegeforen, 126 (18), 2364
PubMed 16998544

Espeseth T, Greenwood PM, Reinvang I, Fjell AM, Walhovd KB, Westlye LT, Wehling E, Lundervold A, Rootwelt H, Parasuraman R (2006)
Interactive effects of APOE and CHRNA4 on attention and white matter volume in healthy middle-aged and older adults
Cogn Affect Behav Neurosci, 6 (1), 31-43
DOI 10.3758/cabn.6.1.31, PubMed 16869227

Espeseth T, Westlye LT, Fjell AM, Walhovd KB, Rootwelt H, Reinvang I (2006)
Accelerated age-related cortical thinning in healthy carriers of apolipoprotein E epsilon 4
Neurobiol Aging, 29 (3), 329-40
DOI 10.1016/j.neurobiolaging.2006.10.030, PubMed 17161508

Hauge Opdal S, Melien Ø, Rootwelt H, Vege A, Arnestad M, Ole Rognum T (2006)
The G protein beta3 subunit 825C allele is associated with sudden infant death due to infection
Acta Paediatr, 95 (9), 1129-32
DOI 10.1080/08035250600580529, PubMed 16938762

Publications 2003

Saether T, Tran TN, Rootwelt H, Christophersen BO, Haugen TB (2003)
Expression and regulation of delta5-desaturase, delta6-desaturase, stearoyl-coenzyme A (CoA) desaturase 1, and stearoyl-CoA desaturase 2 in rat testis
Biol Reprod, 69 (1), 117-24
DOI 10.1095/biolreprod.102.014035, PubMed 12606372

Publications 2002

Johansen PW, Bergan S, Rootwelt H, Kvittingen EA, Rugstad HE (2002)
[Individualized pharmacotherapy based on cytochrome P-450 (CYP) genotyping]
Tidsskr Nor Laegeforen, 122 (29), 2781-3
PubMed 12523145

Molden E, Johansen PW, Bøe GH, Bergan S, Christensen H, Rugstad HE, Rootwelt H, Reubsaet L, Lehne G (2002)
Pharmacokinetics of diltiazem and its metabolites in relation to CYP2D6 genotype
Clin Pharmacol Ther, 72 (3), 333-42
DOI 10.1067/mcp.2002.127396, PubMed 12235455

Publications 2000

Liestøl K, Kvittingen EA, Rootwelt H, Dunlop O, Goplen AK, Pedersen JC, Brorson SH, Børresen-Dale AL, Myrvang B, Maehlen J (2000)
Association between apolipoprotein E genotypes and cancer risk in patients with acquired immunodeficiency syndrome
Cancer Detect Prev, 24 (5), 496-9
PubMed 11129992

Publications 1997

Dunlop O, Goplen AK, Liestøl K, Myrvang B, Rootwelt H, Christophersen B, Kvittingen EA, Maehlen J (1997)
HIV dementia and apolipoprotein E
Acta Neurol Scand, 95 (5), 315-8
DOI 10.1111/j.1600-0404.1997.tb00217.x, PubMed 9188909

Publications 1996

Rootwelt H, Høie K, Berger R, Kvittingen EA (1996)
Fumarylacetoacetase mutations in tyrosinaemia type I
Hum Mutat, 7 (3), 239-43
DOI 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5, PubMed 8829657

Publications 1995

Rootwelt H (1995)
Studies on the molecular genetics of tyrosinaemia type 1
Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, [Oslo], 1 b. (flere pag.)
BIBSYS 952247100, ISBN 82-7633-066-5

Publications 1994

Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P (1994)
Self-induced correction of the genetic defect in tyrosinemia type I
J Clin Invest, 94 (4), 1657-61
DOI 10.1172/JCI117509, PubMed 7929843

Rootwelt H, Berger R, Gray G, Kelly DA, Coşkun T, Kvittingen EA (1994)
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1
Am J Hum Genet, 55 (4), 653-8
PubMed 7942842

Rootwelt H, Brodtkorb E, Kvittingen EA (1994)
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I
Am J Hum Genet, 55 (6), 1122-7
PubMed 7977370

Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA (1994)
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase
Hum Genet, 93 (6), 615-9
DOI 10.1007/BF00201558, PubMed 8005583

Rootwelt H, Kristensen T, Berger R, Høie K, Kvittingen EA (1994)
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene
Hum Genet, 94 (3), 235-9
DOI 10.1007/BF00208276, PubMed 8076937

Publications 1993

Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R (1993)
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect
J Clin Invest, 91 (4), 1816-21
DOI 10.1172/JCI116393, PubMed 8473520

Publications 1992

Kvittingen EA, Rootwelt H, van Dam T, van Faassen H, Berger R (1992)
Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein
Pediatr Res, 31 (1), 43-6
DOI 10.1203/00006450-199201000-00008, PubMed 1594329

Rootwelt H, Kvittingen EA, Høie K, Agsteribbe E, Hartog M, van Faassen H, Berger R (1992)
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency
Hum Genet, 89 (2), 229-33
DOI 10.1007/BF00217128, PubMed 1350265

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