C. Mache

发表

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

T. Eisenberger, C. Bergmann, C. Decker, 2015, PloS one.

Clinical Management of Common Nephrourologic Disorders (Guidelines and Beyond)

M. Riccabona, C. Mache, R. Fotter, 2008 .

Successful Treatment of Chronic Recurrent Multifocal Osteomyelitis With Tumor Necrosis Factor-α Blockage

C. Mache, A. Deutschmann, K. Bodó, 2005, Pediatrics.

Hydronephrotic kidney: pediatric three-dimensional US for relative renal size assessment--initial experience.

M. Riccabona, C. Mache, G. Fritz, 2005, Radiology.

Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

H. Blanché, S. Saunier, A. Boland, 2018, Human mutation.

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study

B. Tönshoff, D. Haffner, L. Pape, 2022, Frontiers in Medicine.

The conundrum of postpartum thrombotic Microangiopathy: case report and considerations for management

M. Pollheimer, C. Mache, E. Weiss, 2019, BMC Nephrology.

Renal Parenchymal Disease

M. Riccabona, C. Mache, E. Ring, 2001 .

Renal Parenchymal Disease 19

M. Riccabona, C. Mache, E. Ring, 2008 .

Renal Agenesis, Dysplasia, Hypoplasia, and Cystic Diseases of the Kidney

C. Mache, H. Hubmann, 2018 .

SHORT syndrome and insulin resistance.

C. Mache, J. Schwingshandl, M. Borkenstein, 1993, American journal of medical genetics.

De novo HNF-1β gene mutation in familial hypoplastic glomerulocystic kidney disease

C. Mache, K. Preisegger, M. Ratschek, 2002, Pediatric Nephrology.

Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1

H. Popper, C. Mache, S. Haworth, 2007, Thorax.

Imaging in Renal Failure, Neonatal Oligoanuria, and Renal Transplantation

M. Riccabona, C. Mache, M. B. Damasio, 2018 .

Skin transplantation to monitor clinical donor‐related tolerance in mixed hematopoietic chimerism

C. Mache, O. Zach, W. Schwinger, 2006, Pediatric transplantation.

Pharmacological treatment of atypical hemolytic-uremic syndrome

C. Mache, U. Vester, 2014 .

Complement inhibitor eculizumab in atypical hemolytic uremic syndrome.

P. Zipfel, C. Mache, V. Frémeaux-Bacchi, 2009, Clinical journal of the American Society of Nephrology : CJASN.

Severe chorea with positive anti-basal ganglia antibodies after herpesencephalitis

G. Giovannoni, C. Mache, B. Plecko, 2006, Journal of Neurology Neurosurgery & Psychiatry.

Autosomal dominant familial Mediterranean feverlike syndrome

C. Mache, J. Schwingshandl, N. Fischel‐Ghodsian, 1996, European Journal of Pediatrics.

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

F. Lindbichler, C. Mache, B. Plecko, 2009, Molecular genetics and metabolism.

Renal Parenchymal Disease

M. Riccabona, C. Mache, E. Ring, 2001 .

Causes of hematochezia and hemorrhagic antibiotic-associated colitis in children and adolescents

C. Mache, A. Deutschmann, E. Leitner, 2017, Medicine.

Eculizumab Use for Kidney Transplantation in Patients With a Diagnosis of Atypical Hemolytic Uremic Syndrome

G. Ardissino, G. Ariceta, F. Schaefer, 2018, Kidney international reports.

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

E. Salido, G. Nürnberg, M. Wolf, 2012, European Journal of Human Genetics.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

A. Köttgen, T. Ahluwalia, O. Gribouval, 2019, The Journal of clinical investigation.

Undifferentiated (embryonal) sarcoma of the liver in childhood. Successful combined‐modality therapy in four patients

M. Riccabona, C. Mache, G. Ranner, 1993, Cancer.

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

M. Hurles, P. Scambler, T. Neuhann, 2013, Human mutation.

[Austrian Consensus on High Blood Pressure 2019].

J. Auer, S. Pilz, C. Mache, 2019, Wiener klinische Wochenschrift.

Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: A report of two siblings

C. Mache, I. Slavc, W. Holter, 1994, Annals of Hematology.

Adoptive immunotransfer with viable donor mononuclear cells for recurrent chronic myelogenous leukemia after allogeneic bone marrow transplantation in two children.

O. Haas, G. Höfler, C. Mache, 1995, Pediatric hematology and oncology.

Echo-enhanced color Doppler cystosonography of vesicoureteral reflux in children: Improvement by stimulated acoustic emission

M. Riccabona, F. Lindbichler, C. Mache, 2003, Acta radiologica.

Echo-Enhanced Color Doppler Cystosonography of Vesicoureteral Reflux in Children

M. Riccabona, F. Lindbichler, C. Mache, 2003 .

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

J. Gécz, M. Bitner-Glindzicz, J. Tolmie, 2006, Human molecular genetics.

New treatment options for atypical hemolytic uremic syndrome with the complement inhibitor eculizumab.

J. Nürnberger, C. Mache, L. Zimmerhackl, 2010, Seminars in thrombosis and hemostasis.

Inverted formin 2‐related Charcot‐Marie‐Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

S. Züchner, J. Weis, H. Fehrenbach, 2015, Journal of the peripheral nervous system : JPNS.

Cyanosis in a male Nigerian infant with acute kidney injury: Answers

C. Mache, E. Ring, J. Pansy, 2014, Pediatric Nephrology.

DEAP-HUS: Deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome

P. Zipfel, C. Skerka, C. Mache, 2010, Pediatric Nephrology.

Infants Requiring Maintenance Dialysis: Outcomes of Hemodialysis and Peritoneal Dialysis.

A. Jankauskienė, F. Schaefer, J. Groothoff, 2017, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Hemodiafiltration in infants with complications during peritoneal dialysis.

C. Mache, M. Koestenberger, G. Zobel, 2012, Artificial organs.

FK 506 and successful pregnancy in a patient after renal transplantation.

C. Mache, H. Holzer, B. Resch, 1998, Transplantation proceedings.

Amyloid Goiter in a Child with Familial Mediterranean Fever

C. Mache, A. Pfleger, J. Schwingshandl, 1994, The Journal of pediatric endocrinology.

Two decades’ experience of renal replacement therapy in paediatric patients with acute renal failure

C. Mache, G. Pichler, M. Trop, 2006, European Journal of Pediatrics.

Continuous Renal Replacement Therapy With Prismaflex HF20 Disposable Set in Children From 4 to 15 kg

C. Mache, M. Koestenberger, G. Zobel, 2011, ASAIO journal.

First Experience with the Prismaflex Hf 20 Set in Four Infants

C. Mache, M. Koestenberger, G. Zobel, 2011, The International journal of artificial organs.

The authors’ reply to the comments by Urban et al. on ‘Skin transplantation to monitor clinical donor‐related tolerance in mixed hematopoietic chimerism’ (Pediatr Transplant 2006; 10: 128–131)

C. Mache, E. Ring, 2006 .

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Markus M. Rinschen, M. Bertrand, O. de Backer, 2016, The New England journal of medicine.

Transient Antenatal Bartter ’ s Syndrome , and MAGED 2 Mutations

Markus M. Rinschen, M. Bertrand, T. Benzing, 2016 .

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

R. Trembath, R. Harrison, N. Morrell, 2005, Circulation.

Early versus late start of immunosuppressive therapy in idiopathic membranous nephropathy : a randomized controlled trial

M. Oppermann, P. Zipfel, C. Mache, 2009 .

Future expectations--what paediatric nephrologists and urologists await from paediatric uroradiology.

C. Mache, E. Ring, P. Vilits, 2002, European journal of radiology.

Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome.

M. Oppermann, P. Zipfel, C. Mache, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Ultrasound and MRI findings in a case of childhood amyloid goiter

C. Fock, M. Riccabona, C. Mache, 1993, Pediatric Radiology.

One-year safe use of the Prismaflex HF20® disposable set in infants in 220 renal replacement treatment sessions

C. Mache, M. Koestenberger, G. Zobel, 2011, Intensive Care Medicine.

Nephropathia Epidemica (Puumala Virus Infection) in Austrian Children

C. Mache, W. Zenz, E. Ring, 2010, The Pediatric Infectious Disease Journal.

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

N. Hamajima, C. Mache, B. Lohkamp, 2013, Pediatric Nephrology.

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype–genotype observations in four children

C. Mache, P. Bufler, Magdalena Danyel, 2023, Liver international : official journal of the International Association for the Study of the Liver.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .

Transforming Growth Factor-&bgr; Receptor Mutations and Pulmonary Arterial Hypertension in Childhood

R. Trembath, R. Harrison, N. Morrell, 2005 .

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

G. Giovannoni, C. Mache, B. Plecko, 2005 .

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

A. Köttgen, T. Ahluwalia, O. Gribouval, 2019, The Journal of clinical investigation.

Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome.

M. Oppermann, P. Zipfel, C. Mache, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

R. Trembath, R. Harrison, N. Morrell, 2005, Circulation.