Diana Ballhausen

Publications | Mémoires et thèses

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87 publications

Sous presse | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 |
 
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry.
Huemer M., Diodato D., Martinelli D., Olivieri G., Blom H., Gleich F., Kölker S., Kožich V., Morris A.A., Seifert B. et al. Journal of inherited metabolic disease. Peer-reviewed.
 
Ammonium accumulation and chemokine decrease in culture media of Gcdh<sup>-/-</sup> 3D reaggregated brain cell cultures.
Cudré-Cung H.P., Remacle N., do Vale-Pereira S., Gonzalez M., Henry H., Ivanisevic J., Schmiesing J., Mühlhausen C., Braissant O., Ballhausen D., 2019/04. Molecular genetics and metabolism, 126 (4) pp. 416-428. Peer-reviewed.
 
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Voinea C., Gonzalez Rodriguez E., Beigelman-Aubry C., Leroy V., Aubry-Rozier B., Campos-Xavier B., Ballhausen D., Lazor R., Barbey F., Bonafé L. et al., 2019/03. Journal of bone and mineral metabolism, 37 (2) pp. 378-383. Peer-reviewed.
 
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
Remacle N., Forny P., Cudré-Cung H.P., Gonzalez-Melo M., do Vale-Pereira S., Henry H., Teav T., Gallart-Ayala H., Braissant O., Baumgartner M. et al., 2018/08. Molecular genetics and metabolism, 124 (4) pp. 266-277. Peer-reviewed.
 
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin Y., Sidky S., Abdenur J., Anastasi A., Ballhausen D., Buoni S., Chan A., Cheillan D., Dorison N., Goldenberg A. et al., 2018/05. European journal of paediatric neurology, 22 (3) pp. 369-379. Peer-reviewed.
 
Issues with European guidelines for phenylketonuria.
Burgard P., Ullrich K., Ballhausen D., Hennermann J.B., Hollak CEM, Langeveld M., Karall D., Konstantopoulou V., Maier E.M., Lang F. et al., 2017/09. The lancet. Diabetes & endocrinology, 5 (9) pp. 681-683. Peer-reviewed.
 
Epidemiology of mucopolysaccharidoses.
Khan S.A., Peracha H., Ballhausen D., Wiesbauer A., Rohrbach M., Gautschi M., Mason R.W., Giugliani R., Suzuki Y., Orii K.E. et al., 2017/07. Molecular genetics and metabolism, 121 (3) pp. 227-240. Peer-reviewed.
 
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S., Biela-Banaś A., Burda P., Ballhausen D., Higaki K., Caciotti A., Morrone A., Charollais-Thoenig J., Gallienne E., Demotz S. et al., 2017/04/27. European journal of medicinal chemistry, 126 pp. 160-170. Peer-reviewed.
 
Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues.
Braissant O., Jafari P., Remacle N., Cudré-Cung H.P., Do Vale Pereira S., Ballhausen D., 2017/02/20. Neuroscience, 343 pp. 355-363. Peer-reviewed.
 
L’interniste face aux maladies rares: quand y penser? L’exemple des maladies mitochondriales [Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]
Tran C., Serratrice J., Nuoffer J.M., Schaller A., Favrat B., Barbey F., Lobrinus J.A., Kern I., Kuntzer T., Ballhausen D., 2017/01/18. Revue medicale suisse, 13 (546) pp. 159-163. Peer-reviewed.
 
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N., Mühlhausen C., Maier E.M., Heringer J., Assmann B., Burgard P., Dixon M., Fleissner S., Greenberg C.R., Harting I. et al., 2017/01. Journal of inherited metabolic disease, 40 (1) pp. 75-101.
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.
Cudré-Cung H.P., Zavadakova P., do Vale-Pereira S., Remacle N., Henry H., Ivanisevic J., Tavel D., Braissant O., Ballhausen D., 2016/09. Molecular genetics and metabolism, 119 (1-2) pp. 57-67. Peer-reviewed.
 
MRI and (1)H-MRS in adenosine kinase deficiency.
Staufner C., Blom H.J., Dionisi-Vici C., Freisinger P., Makhseed N., Ballhausen D., Kölker S., Hoffmann G.F., Harting I., 2016/07. Neuroradiology, 58 (7) pp. 697-703. Peer-reviewed.
 
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C., Lindner M., Dionisi-Vici C., Freisinger P., Dobbelaere D., Douillard C., Makhseed N., Straub B.K., Kahrizi K., Ballhausen D. et al., 2016. Journal of Inherited Metabolic Disease, 39 (2) pp. 273-283. Peer-reviewed.
 
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra N.G., Ballhausen D., Crawford H., Perreau M., Campos-Xavier B., van Spaendonck-Zwarts K., Vermeer C., Russo M., Zambelli P.Y., Stevenson B. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2902-2912. Peer-reviewed.
 
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Fischer S., Huemer M., Baumgartner M., Deodato F., Ballhausen D., Boneh A., Burlina A.B., Cerone R., Garcia P., Gökçay G. et al., 2014. Journal of Inherited Metabolic Disease, 37 (5) pp. 831-840. Peer-reviewed.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Rüegger C.M., Lindner M., Ballhausen D., Baumgartner M.R., Beblo S., Das A., Gautschi M., Glahn E.M., Grünert S.C., Hennermann J. et al., 2014. Journal of Inherited Metabolic Disease, 37 (1) pp. 21-30.
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Abela L., Plecko B., Palla A., Burda P., Nuoffer J.M., Ballhausen D., Rohrbach M., 2014. Orphanet Journal of Rare Diseases, 9 (1) p. 176. Peer-reviewed.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner M.R., Hörster F., Dionisi-Vici C., Haliloglu G., Karall D., Chapman K.A., Huemer M., Hochuli M., Assoun M., Ballhausen D. et al., 2014. Orphanet Journal of Rare Diseases, 9 (1) p. 130. Peer-reviewed.
 
Altered expression and posttranslational modification of neurofilaments in methylmalonic aciduria
Cung H.P., Zavadakova P., Braissant O., Ballhausen D., 2013. pp. S173 dans ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafé L., Ballhausen D., 2013. Plos One, 8 (1) pp. e53735. Peer-reviewed.
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafé L., Ballhausen D., 2013. Orphanet Journal of Rare Diseases, 8 (4) pp. 1-14. Peer-reviewed.
 
Different types of cell death are involved in brain damage of methylmalonic aciduria and glutaric aciduria type I
Zavadakova P., Jafari P., Cung HP, Werner D., Braissant O., Bonafé L., Ballhausen D., 2013. pp. S170-S171 dans ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
Low concentrations of 3-hydroxy glutarate leads to ammonium accumulation and non-apoptotic cell death in developing brain cells
Jafari P., Zavadakova P., Cung H.P., Braissant O., Ballhausen D., 2013. pp. S173 dans ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Mise à jour du diagnostic des maladies lysosomiales en Suisse
Ballhausen D., Rohrbach M., 2013. Paediatrica, 24 (5) pp. 27-28.
 
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Kannu P., Campos-Xavier A.B., Hull D., Martinet D., Ballhausen D., Bonafé L., 2013. European Journal of Medical Genetics, 56 (8) pp. 452-457. Peer-reviewed.
 
BRAIN DAMAGE IN METHYLMALONIC ACIDURIA: 2-METHYLCITRATE LEADS TO AMMONIA INCREASE AND APOPTOSIS
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafe L., Ballhausen D., 2012. pp. S9 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
NEUROPATHOPHYSIOLOGICAL MECHANISMS IN GLUTARIC ACIDURIA TYPE I: 3-HYDROXYGLUTARIC ACID LEADS TO AMMONIA INCREASE AND NON-APOPTOTIC CELL DEATH
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafe L., Ballhausen D., 2012. pp. S56 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
Nouvelles thérapies pour les maladies osseuses de l'enfant [New therapies for children affected by bone diseases].
Ballhausen D., Dépraz N.G., Kern I., Unger S., Bonafé L., 2012. Revue Médicale Suisse, 8 (329) pp. 398-402.
 
SOMATIC MUTATIONS IN THE KREBS CYCLE ENZYME ISOCITRATE DEHYDROGENASE 1 (IDH1) CAUSE METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
Bonafe L., Vissers L. E. L. M., Dionisi-Vici C., Martinelli D., Barbuti D., Fano V, Sass J. O., Ballhausen D., Suarez P., Campos-Xavier A. B. et al., 2012. pp. S143 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
A NOVEL MUTATION IN BCS1L IN A PATIENT WITH AN ISOLATED MITOCHONDRIAL COMPLEX III DEFICIENCY
Hahn D., Schaller A., Bonafe L., Haeberli A., Ferrarini A., Ballhausen D., Gallati S., Chehade H., Nuoffer J.M., 2011. pp. S163 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant
Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafé L., 2011. Pediatric Reports, 3 (3) pp. 103-107.
 
CO-EXPRESSION OF GCDH AND OAT1 IN NEURONS AND PROXIMAL TUBULE CELLS
Ballhausen D., Jafari P., Bonafe L., Braissant O., 2011. pp. S141 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Boyden E.D., Campos-Xavier A.B., Kalamajski S., Cameron T.L., Suarez P., Tanackovich G., Andria G., Ballhausen D., Briggs M.D., Hartley C. et al., 2011. American Journal of Human Genetics, 89 (6) pp. 767-772.
 
The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.
Jafari P., Braissant O., Bonafé L., Ballhausen D., 2011. Molecular Genetics and Metabolism, 104 (4) pp. 425-437. Peer-reviewed.
 
BORN AT 27 WEEKS OF GESTATION WITH CLASSICAL PKU: CHALLENGES OF DIETETIC MANAGEMENT IN A VERY PRETERM INFANT
Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafe L., 2010. pp. S105 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
DETERMINATION OF CELL-SPECIFIC NEUROTOXICITY OF MALONATE, METHYLMALONATE AND PROPIONATE IN A 3D RAT BRAIN CELL AGGREGATE SYSTEM
Ballhausen D., Henry H., Bonafe L., Braissant O., 2010. pp. S42 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
DIFFERENTIAL EXPRESSION OF GLUTARYL-CoA DEHYDROGENASE IN ADULT RAT CNS, PERIPHERAL TISSUES AND DURING EMBRYONIC DEVELOPMENT
Ballhausen D., Bonafe L., Braissant O., 2010. pp. S41 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen W.G., Klepper J., Verbeek M.M., Leferink M., Hofste T., van Engelen B.G., Wevers R.A., Arthur T., Bahi-Buisson N., Ballhausen D. et al., 2010. Brain, 133 (3) pp. 655-670.
Management and outcome of classical phenylketonuria in a preterm infant
Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafé L., 2010. dans 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU.
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
Ballhausen D., Guerry F., Hahn D., Schaller A., Nuoffer J.M., Bonafé L., Jeannet P.Y., Jacquemont S., 2010. Journal of Inherited Metabolic Disease, 33 Suppl 3 (Suppl 3) pp. S219-S226.
 
Multiple Epiphyseal Dysplasia, Recessive.
Bonafé L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., 2010. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews, University of Washington.
 
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
Novy J., Ballhausen D., Bonafé L., Cairoli A., Angelillo-Scherrer A., Bachmann C., Michel P., 2010. Thrombosis and Haemostasis, 103 (4) pp. 871-873.
Swiss Group for Inborn Errors of Metabolism (SGIEM): Recommendations about the use of tetrahydrobiopterin (BH4) in phenylketonuric (PKU) patients in Switzerland
Swiss Group for Inborn Errors of Metabolism (SGIEM), Ballhausen D., Baumgartner M., Bonafé L., Gautschi M., Huemer M., Jacobs P., Kern I., Nuoffer JM, Rohrbach M. et al., 2010. Paediatrica, 21 (5) p. 37.
 
Achondrogenesis Type 1B.
Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., 2009. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet], University of Washington.
 
Atelosteogenesis Type 2
Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., 2009. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet], University of Washington.
Early neurological impairment and severe anemia in a newborn with Pearson syndrome
Morel A. S., Joris N., Meuli R., Jacquemont S., Ballhausen D., Bonafe L., Fattet S., Tolsa J. F., 2009. European Journal of Pediatrics, 168 (3) pp. 311-5. Peer-reviewed.
 
Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain.
Ballhausen Diana, Mittaz Laureane, Boulat Olivier, Bonafé Louisa, Braissant Olivier, 2009. Neuroscience, 164 (2) pp. 578-587.
 
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxová A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al., 2009. American Journal of Human Genetics, 84 (6) pp. 760-770.
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Gygax Marine Jequier, Roulet-Perez Eliane, Meagher-Villemure Kathleen, Jakobs Cornelis, Salomons Gajja S., Boulat Olivier, Superti-Furga Andrea, Ballhausen Diana, Bonafe Luisa, 2009. European Journal of Pediatrics, 168 (8) pp. 957-962. Peer-reviewed.
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Rimella-Le-Huu A., Henry H., Kern I., Hanquinet S., Roulet-Perez E., Newman C.J., Superti-Furga A., Bonafé L., Ballhausen D., 2008. Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.
Roulet-Perez E., Ballhausen D., Bonafé L., Cronel-Ohayon S., Maeder-Ingvar M., 2008. Epilepsia, 49 (11) pp. 1955-1958. Peer-reviewed.
 
Lethal dilated cardiomyopathy in a girl with SCAD deficiency
Ballhausen D., Sekarski N., Jeannet P.Y., Boulat O., Gregersen N., Bonafe L., 2008. pp. S35 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Long-term follow-up and outcome of patients with tetrahydrobiopterin deficiency
Jaggi L., Zurfluh M. R., Schuler A., Ponzone A., Porta F., Salvatici E., Giovannini M., Santer R., Hoffmann G. F., Ibel H. et al., 2008. pp. S83 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Methylmalonyl-CoA mutase expression in rat brain suggests autonomous methylamalonate production in CNS
Ballhausen D., Bonafe L., Boulat O., Braissant O., 2008. pp. S16 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Jäggi L., Zurflüh M.R., Schuler A., Ponzone A., Porta F., Fiori L., Giovannini M., Santer R., Hoffmann G.F., Ibel H. et al., 2008. Molecular Genetics and Metabolism, 93 (3) pp. 295-305. Peer-reviewed.
 
Peculiar findings in intermediate type of adenylosuccinate lyase deficiency
Ballhausen D., Lazzarino G., Tavazzi B., Jequier M., Roulet-Perez E., Jacquemont S., Roux C., Bonafe L., 2008. pp. S159 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Segregation study in family with severe variant of the A3302G mutation in the mitochondrial tRNA LEU (UUR)
Ballhausen D., Guerry F., Hahn D., Bonafe L., Jacquemont S., 2008. pp. S55 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Variable outcome of tetrahydrobiopterin deficiency: Effect of the time of diagnosis and treatment.
Jaggi L., Zurfluh M.R., Schuler A., Ponzone A., Porta F., Fiori L., Giovannini M., Santer R., Hoffman G. F., Ibel H. et al., 2008. p. 11 dans SIMD 2008, Annual Meeting of the Society for Inherited Metabolic Disorders, Molecular Genetics and Metabolism. Peer-reviewed.
 
Delayed diagnosis of atypical mild GLUT1 deficiency
Ballhausen D., Kallay C., Cronel-Ohayon S., Maeder-Ingvar M., Roulet-Perez E., Bonafe L., 2007. p. 57 dans 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Early onset severe myopathy due to the A3302G mutation in the mitochondrial tRNA LEU(UUR).
Hahn D., Schaller A., Gallati S., Ballhausen D., Jacquemont S., Jeannet P.Y., Bonafé L., Nuoffer J.M., 2007. p. 72 dans 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Glucose transporter type 1 (GLUT-1) deficiency syndrome can be mistaken for primary generalized epilepsy
Maeder-Ingvar M., Cronel-Ohayon S., Kallay C., Ballhausen D., Roulet-Perez E., 2007. p. 87 dans 11th Congress of the European Federation of Neurological Societies, European Journal of Neurology. Peer-reviewed.
 
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
Renella R., Schaefer E., LeMerrer M., Alanay Y., Kandemir N., Eich G., Costa T., Ballhausen D., Boltshauser E., Bonafe L. et al., 2006/03. American Journal of Medical Genetics. Part A, 140 (6) pp. 541-50. Peer-reviewed.
 
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Loupatty F.J., van der Steen A., Ijlst L., Ruiter J.P., Ofman R., Baumgartner M.R., Ballhausen D., Yamaguchi S., Duran M., Wanders R.J., 2006. Molecular Genetics and Metabolism, 87 (3) pp. 243-248. Peer-reviewed.
 
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
Renella Raffaele, Schaefer Elke, LeMerrer Martine, Alanay Yasemin, Kandemir Nurgun, Eich Georg, Costa Teresa, Ballhausen Diana, Boltshauser Eugen, Bonafé Luisa et al., 2006. American Journal of Medical Genetics Part A, 140 (6) pp. 541-550.
Swiss Metabolic Group. Recommendations pour le traitement de la phénylcétonurie et de l'hyperphénylalaniémie
Ballhausen D., Baumgartner M., Bonafé L., Fiege B., Kern I., Nuoffer JM, 2006. Paediatrica, 17 (2) p. 14.
 
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study
Fiege B., Bonafe L., Ballhausen D., Baumgartner M., Thony B., Meili D., Fiori L., Giovannini M., Blau N., 2005/12. Molecular Genetics and Metabolism, 86 Suppl 1 pp. S91-5. Peer-reviewed.
 
Extended tetrahydrobiopterin (BH4) loading test in the diagnosis of BH4_responsive PKU
Fiege B., Fiori L., Bonafe L., Ballhausen D., Baumgartner M., Thoeny B., Giovannini M., Blau N., 2005. p. 31 dans SSIEM 2005, 42st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases. Peer-reviewed.
 
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
Balmer C., Ballhausen D., Bosshard N.U., Steinmann B., Boltshauser E., Bauersfeld U., Superti-Furga A., 2005. European Journal of Pediatrics, 164 (8) pp. 509-514.
 
Diastrophic Dysplasia
Bonafé L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., 2004. <?xml Vers p. 18. Peer-reviewed.
 
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.
Fiege B., Ballhausen D., Kierat L., Leimbacher W., Goriounov D., Schircks B., Thöny B., Blau N., 2004. Molecular Genetics and Metabolism, 81 (1) pp. 45-51. Peer-reviewed.
 
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Muschol N., Storch S., Ballhausen D., Beesley C., Westermann J.C., Gal A., Ullrich K., Hopwood J.J., Winchester B., Braulke T., 2004. Human Mutation, 23 (6) pp. 559-566. Peer-reviewed.
 
Mass spectrometric analysis of human transferrin in different body fluids.
Kleinert P., Kuster T., Durka S., Ballhausen D., Bosshard N.U., Steinmann B., Hänseler E., Jaeken J., Heizmann C.W., Troxler H., 2003. Clinical Chemistry and Laboratory Medicine, 41 (12) pp. 1580-1588.
 
Pharmacokinetic of orally administered tetrahydrobiopterin and its stability in plasma
Blau N., Fiege B., Ballhausen D., Schircks B., Kierat L., Leimbacher W., Thöny B., 2003. p. 23 dans 9th International Congress on Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Ballhausen D., Bonafe L., Terhal P., Unger S. L., Bellus G., Classen M., Hamel B. C., Spranger J., Zabel B., Cohn D. H. et al., 2003/01. Journal of Medical Genetics, 40 (1) pp. 65-71. Peer-reviewed.
 
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
Kölble N., Sobetzko D., Ersch J., Stallmach T., Eich G., Huch R., Huch A., Superti-Furga A., Wisser J., 2002. Ultrasound In Obstetrics and Gynecology, 19 (1) pp. 92-98.
 
Expression studies of mutant sulfamidases
Muschol N., Storch S., Ballhausen D., Gal A., Beesley C., Ullrich K., Hopwood J., Winchester B., Braulke T., 2002. p. 122 dans 8th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Hydroxylated residues influence desensitization behaviour of recombinant alpha3 glycine receptor channels.
Breitinger H.G., Villmann C., Rennert J., Ballhausen D., Becker C.M., 2002. Journal of Neurochemistry, 83 (1) pp. 30-36. Peer-reviewed.
Vorzeitig generalisierte Polyarthrose (Stickler Syndrom) [Early-onset generalized polyarthritis (Stickler syndrome)].
Mach J., Sobetzko D., Superti-Furga A., Stoll T., 2002. Praxis, 91 (9) pp. 361-366.
 
Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.
Sobetzko D., Sander T., Becker C.M., 2001. American Journal of Medical Genetics, 105 (6) pp. 534-538. Peer-reviewed.
 
A multiplicity of loci for multiple epiphyseal dysplasia.
Unger S.L., King L.M., Sobetzko D., Superti-Furga A., Cohn D.H., 2000. p. 371 dans 50th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
 
Achondroplasia with the FGFR3 1138g--&gt;a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Sobetzko D., Braga S., Rüdeberg A., Superti-Furga A., 2000. Journal of Medical Genetics, 37 (12) pp. 958-959.
 
Allelic variants of the glycine receptor alpha 1 subunit gene (GLRA1) in the human neurological disorder hyperekplexia, define molecular determinants of ion channel gating
Becker C.M., Becker K., Breitinger H.G., Villmann C., Nikolic Z., Sobetzko D., 2000. p. 516 dans 6th Annual Meeting of the Organization for Human Brain Mapping, European Journal of Neuroscience. Peer-reviewed.
 
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
Sobetzko D., Eich G., Kalff-Suske M., Grzeschik K.H., Superti-Furga A., 2000. American Journal of Medical Genetics, 90 (3) pp. 239-242.
 
Insulin-dependent diabetes mellitus induced by the antitussive agent dextromethorphan.
Konrad D., Sobetzko D., Schmitt B., Schoenle E.J., 2000. Diabetologia, 43 (2) pp. 261-262.
 
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation twelve individuals homozygous for DTDST mutation R279W.
Superti-Furga A., Hecht J., Unger S., Cole W., Hamel B., Bellus G., Classen M., LeMerrer M., Zabel B., Langer L et al., 2000. p. 379 dans 50th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
Saul B., Kuner T., Sobetzko D., Brune W., Hanefeld F., Meinck H.M., Becker C.M., 1999. Journal of Neuroscience, 19 (3) pp. 869-877. Peer-reviewed.
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