K M Stepien

Affiliations

Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, M6 8, HD, UK.

Publications (20)

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.

Journal of clinical medicine

Avec: Karolina M Stepien , Federico Roncaroli , Nadia Turton , Christian J Hendriksz , Mark Roberts , Robert A Heaton , Iain Hargreaves

Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis.

Journal of clinical medicine

Avec: Chaitanya Gadepalli , Karolina M Stepien , Govind Tol

GM1 Gangliosidosis-A Mini-Review.

Frontiers in genetics

Avec: Elena-Raluca Nicoli , Ida Annunziata , Alessandra d'Azzo , Frances M Platt , Cynthia J Tifft , Karolina M Stepien

Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia.

JIMD reports

Avec: Andreas Tridimas , Godfrey T Gillett , Sally Pollard , Nandini Sadasivam , Adrian Williams , Kirsty Mellor , Anthony Catchpole , Karolina M Stepien

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.

Orphanet journal of rare diseases

Avec: Maureen Cleary , James Davison , Rachel Gould , Tarekegn Geberhiwot , Derralynn Hughes , Jean Mercer , Alexandra Morrison , Elaine Murphy , Saikat Santra , James Jarrett , Swati Mukherjee , Karolina M Stepien

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.

Journal of clinical medicine

Avec: Teodoro Jerves Serrano , Jessica Gold , James A Cooper , Heather J Church , Karen L Tylee , Hoi Yee Wu , Sun Young Kim , Karolina M Stepien

Neuropsychology assessment and outcomes in adult mucopolysaccharidosis - A systematic review as the first step to service development in a large tertiary Lysosomal Storage Disorders centre.

Molecular genetics and metabolism

Avec: Cliff Chen , Abigail Methley , Ramona Naicker , Stewart Rust , Karolina M Stepien

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.

Children (Basel, Switzerland)

Avec: Majitha Seyed Ibrahim , Jessica I Gold , Alison Woodall , Berna Seker Yilmaz , Paul Gissen , Karolina M Stepien

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Journal of inherited metabolic disease

Avec: Sonam Gurung , Saketh Karamched , Dany Perocheau , Kiran K Seunarine , Tom Baldwin , Haya Alrashidi , Loukia Touramanidou , Claire Duff , Nour Elkhateeb , Karolina M Stepien , Reena Sharma , Andrew Morris , Thomas Hartley , Laura Crowther , Stephanie Grunewald , Maureen Cleary , Helen Mundy , Anupam Chakrapani , Spyros Batzios , James Davison , Emma Footitt , Karin Tuschl , Robin Lachmann , Elaine Murphy , Saikat Santra , Mari-Liis Uudelepp , Mildrid Yeo , Patrick F Finn , Alex Cavedon , Summar Siddiqui , Lisa Rice , Paolo G V Martini , Andrea Frassetto , Simon Heales , Philippa B Mills , Paul Gissen , Jonathan D Clayden , Christopher A Clark , Simon Eaton , Tammy L Kalber , Julien Baruteau

Health and well-being of maturing adults with classic galactosemia.

Journal of inherited metabolic disease

Avec: Olivia S Garrett , Jared J Druss , E Naomi Vos , Yu-Ting Debbie Fu , Stephanie Lucia , Patricia E Greenstein , Anna Bauer , Jolanta Sykut-Cegielska , Karolina M Stepien , Cameron Arbuckle , Olga Grafakou , Uta Meyer , Nele Vanhoutvin , Adriana Pané , Annet M Bosch , Estela Rubio-Gozalbo , Gerard T Berry , Judith L Fridovich-Keil

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.

Frontiers in medicine

Avec: Karolina M Stepien , Beata Kieć-Wilk , Christina Lampe , Trine Tangeraas , Graziella Cefalo , Nadia Belmatoug , Rita Francisco , Mireia Del Toro , Leona Wagner , Anne-Grethe Lauridsen , Sylvia Sestini , Nathalie Weinhold , Andreas Hahn , Chiara Montanari , Valentina Rovelli , Cinzia M Bellettato , Laura Paneghetti , Corine van Lingen , Maurizio Scarpa

Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.

Frontiers in cardiovascular medicine

Avec: Karolina M Stepien , Andrew Bentley , Cliff Chen , M Wahab Dhemech , Edward Gee , Peter Orton , Catherine Pringle , Jonathan Rajan , Ankur Saxena , Govind Tol , Chaitanya Gadepalli

Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses.

Frontiers in cardiovascular medicine

Avec: Karolina M Stepien , Elizabeth A Braunlin

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.

International journal of molecular sciences

Avec: Karolina M Stepien , Neve Cufflin , Aimee Donald , Simon Jones , Heather Church , Iain P Hargreaves

Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.

Genes

Avec: Udara D Senarathne , Neluwa-Liyanage R Indika , Aleksandra Jezela-Stanek , Elżbieta Ciara , Richard E Frye , Cliff Chen , Karolina M Stepien

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Frontiers in genetics

Avec: Bianca Panis , E Naomi Vos , Ivo Barić , Annet M Bosch , Martijn C G J Brouwers , Alberto Burlina , David Cassiman , David J Coman , María L Couce , Anibh M Das , Didem Demirbas , Aurélie Empain , Matthias Gautschi , Olga Grafakou , Stephanie Grunewald , Sandra D K Kingma , Ina Knerr , Elisa Leão-Teles , Dorothea Möslinger , Elaine Murphy , Katrin Õunap , Adriana Pané , Sabrina Paci , Rossella Parini , Isabel A Rivera , Sabine Scholl-Bürgi , Ida V D Schwartz , Triantafyllia Sdogou , Loai A Shakerdi , Anastasia Skouma , Karolina M Stepien , Eileen P Treacy , Susan Waisbren , Gerard T Berry , M Estela Rubio-Gozalbo

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Clinical genetics

Avec: Siying Lin , Anthony G Robson , Dorothy A Thompson , Karolina M Stepien , Robin Lachmann , Emma Footitt , Ola Czyz , Shwetha Chandrasekhar , Elena Schiff , Christos Iosifidis , Graeme C Black , Michel Michaelides , Omar A Mahroo , Gavin Arno , Andrew R Webster

The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.

Molecular genetics and metabolism

Avec: A Broomfield , J Sims , J Mercer , P Hensman , A Ghosh , K Tylee , K M Stepien , A Oldham , N Prathivadi Bhayankaram , R Wynn , N B Wright , S A Jones , S Wilkinson

Transition of patients with mucopolysaccharidosis from paediatric to adult care.

Molecular genetics and metabolism reports

Avec: C Lampe , B McNelly , A K Gevorkian , C J Hendriksz , T V Lobzhanidze , J Pérez-López , K M Stepien , N D Vashakmadze , M Del Toro

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

Orphanet journal of rare diseases

Avec: Stephanie C M Nijmeijer , L Ingeborg van den Born , Anneke J A Kievit , Karolina M Stepien , Janneke Langendonk , Jan Pieter Marchal , Susanne Roosing , Frits A Wijburg , Margreet A E M Wagenmakers

Réseau de co-auteurs

Karolina M Stepien 18 collaborations

Elaine Murphy 3 collaborations

Cliff Chen 3 collaborations

Chaitanya Gadepalli 2 collaborations

Govind Tol 2 collaborations

Maureen Cleary 2 collaborations

James Davison 2 collaborations

Saikat Santra 2 collaborations

Paul Gissen 2 collaborations

Stephanie Grunewald 2 collaborations

Emma Footitt 2 collaborations

Robin Lachmann 2 collaborations

E Naomi Vos 2 collaborations

Olga Grafakou 2 collaborations

Adriana Pané 2 collaborations

Annet M Bosch 2 collaborations

Gerard T Berry 2 collaborations

Federico Roncaroli 1 collaboration

Nadia Turton 1 collaboration

Christian J Hendriksz 1 collaboration

Mark Roberts 1 collaboration

Robert A Heaton 1 collaboration

Iain Hargreaves 1 collaboration

Elena-Raluca Nicoli 1 collaboration

Ida Annunziata 1 collaboration

Alessandra d'Azzo 1 collaboration

Frances M Platt 1 collaboration

Cynthia J Tifft 1 collaboration

Andreas Tridimas 1 collaboration

Godfrey T Gillett 1 collaboration

Sally Pollard 1 collaboration

Nandini Sadasivam 1 collaboration

Adrian Williams 1 collaboration

Kirsty Mellor 1 collaboration

Anthony Catchpole 1 collaboration

Rachel Gould 1 collaboration

Tarekegn Geberhiwot 1 collaboration

Derralynn Hughes 1 collaboration

Jean Mercer 1 collaboration

Alexandra Morrison 1 collaboration

James Jarrett 1 collaboration

Swati Mukherjee 1 collaboration

Teodoro Jerves Serrano 1 collaboration

Jessica Gold 1 collaboration

James A Cooper 1 collaboration

Heather J Church 1 collaboration

Karen L Tylee 1 collaboration

Hoi Yee Wu 1 collaboration

Sun Young Kim 1 collaboration

Abigail Methley 1 collaboration

Ramona Naicker 1 collaboration

Stewart Rust 1 collaboration

Majitha Seyed Ibrahim 1 collaboration

Jessica I Gold 1 collaboration

Alison Woodall 1 collaboration

Berna Seker Yilmaz 1 collaboration

Sonam Gurung 1 collaboration

Saketh Karamched 1 collaboration

Dany Perocheau 1 collaboration

Kiran K Seunarine 1 collaboration

Tom Baldwin 1 collaboration

Haya Alrashidi 1 collaboration

Loukia Touramanidou 1 collaboration

Claire Duff 1 collaboration

Nour Elkhateeb 1 collaboration

Reena Sharma 1 collaboration

Andrew Morris 1 collaboration

Thomas Hartley 1 collaboration

Laura Crowther 1 collaboration

Helen Mundy 1 collaboration

Anupam Chakrapani 1 collaboration

Spyros Batzios 1 collaboration

Karin Tuschl 1 collaboration

Mari-Liis Uudelepp 1 collaboration

Mildrid Yeo 1 collaboration

Patrick F Finn 1 collaboration

Alex Cavedon 1 collaboration

Summar Siddiqui 1 collaboration

Lisa Rice 1 collaboration

Paolo G V Martini 1 collaboration

Andrea Frassetto 1 collaboration

Simon Heales 1 collaboration

Philippa B Mills 1 collaboration

Jonathan D Clayden 1 collaboration

Christopher A Clark 1 collaboration

Simon Eaton 1 collaboration

Tammy L Kalber 1 collaboration

Julien Baruteau 1 collaboration

Olivia S Garrett 1 collaboration

Jared J Druss 1 collaboration

Yu-Ting Debbie Fu 1 collaboration

Stephanie Lucia 1 collaboration

Patricia E Greenstein 1 collaboration

Anna Bauer 1 collaboration

Jolanta Sykut-Cegielska 1 collaboration

Cameron Arbuckle 1 collaboration

Uta Meyer 1 collaboration

Nele Vanhoutvin 1 collaboration

Estela Rubio-Gozalbo 1 collaboration

Judith L Fridovich-Keil 1 collaboration

Beata Kieć-Wilk 1 collaboration

Christina Lampe 1 collaboration

Trine Tangeraas 1 collaboration

Graziella Cefalo 1 collaboration

Nadia Belmatoug 1 collaboration

Rita Francisco 1 collaboration

Mireia Del Toro 1 collaboration

Leona Wagner 1 collaboration

Anne-Grethe Lauridsen 1 collaboration

Sylvia Sestini 1 collaboration

Nathalie Weinhold 1 collaboration

Andreas Hahn 1 collaboration

Chiara Montanari 1 collaboration

Valentina Rovelli 1 collaboration

Cinzia M Bellettato 1 collaboration

Laura Paneghetti 1 collaboration

Corine van Lingen 1 collaboration

Maurizio Scarpa 1 collaboration

Andrew Bentley 1 collaboration

M Wahab Dhemech 1 collaboration

Edward Gee 1 collaboration

Peter Orton 1 collaboration

Catherine Pringle 1 collaboration

Jonathan Rajan 1 collaboration

Ankur Saxena 1 collaboration

Elizabeth A Braunlin 1 collaboration

Neve Cufflin 1 collaboration

Aimee Donald 1 collaboration

Simon Jones 1 collaboration

Heather Church 1 collaboration

Iain P Hargreaves 1 collaboration

Udara D Senarathne 1 collaboration

Neluwa-Liyanage R Indika 1 collaboration

Aleksandra Jezela-Stanek 1 collaboration

Elżbieta Ciara 1 collaboration

Richard E Frye 1 collaboration

Bianca Panis 1 collaboration

Ivo Barić 1 collaboration

Martijn C G J Brouwers 1 collaboration

Alberto Burlina 1 collaboration

David Cassiman 1 collaboration

David J Coman 1 collaboration

María L Couce 1 collaboration

Anibh M Das 1 collaboration

Didem Demirbas 1 collaboration

Aurélie Empain 1 collaboration

Matthias Gautschi 1 collaboration

Sandra D K Kingma 1 collaboration

Ina Knerr 1 collaboration

Elisa Leão-Teles 1 collaboration

Dorothea Möslinger 1 collaboration

Katrin Õunap 1 collaboration

Sabrina Paci 1 collaboration

Rossella Parini 1 collaboration

Isabel A Rivera 1 collaboration

Sabine Scholl-Bürgi 1 collaboration

Ida V D Schwartz 1 collaboration

Triantafyllia Sdogou 1 collaboration

Loai A Shakerdi 1 collaboration

Anastasia Skouma 1 collaboration

Eileen P Treacy 1 collaboration

Susan Waisbren 1 collaboration

M Estela Rubio-Gozalbo 1 collaboration

Siying Lin 1 collaboration

Anthony G Robson 1 collaboration

Dorothy A Thompson 1 collaboration

Ola Czyz 1 collaboration

Shwetha Chandrasekhar 1 collaboration

Elena Schiff 1 collaboration

Christos Iosifidis 1 collaboration

Graeme C Black 1 collaboration

Michel Michaelides 1 collaboration

Omar A Mahroo 1 collaboration

Gavin Arno 1 collaboration

Andrew R Webster 1 collaboration

A Broomfield 1 collaboration

J Sims 1 collaboration

J Mercer 1 collaboration

P Hensman 1 collaboration

A Ghosh 1 collaboration

K Tylee 1 collaboration

A Oldham 1 collaboration

N Prathivadi Bhayankaram 1 collaboration

R Wynn 1 collaboration

N B Wright 1 collaboration

S A Jones 1 collaboration

S Wilkinson 1 collaboration

C Lampe 1 collaboration

B McNelly 1 collaboration

A K Gevorkian 1 collaboration

C J Hendriksz 1 collaboration

T V Lobzhanidze 1 collaboration

J Pérez-López 1 collaboration

N D Vashakmadze 1 collaboration

M Del Toro 1 collaboration

Stephanie C M Nijmeijer 1 collaboration

L Ingeborg van den Born 1 collaboration

Anneke J A Kievit 1 collaboration

Janneke Langendonk 1 collaboration

Jan Pieter Marchal 1 collaboration

Susanne Roosing 1 collaboration

Frits A Wijburg 1 collaboration

Margreet A E M Wagenmakers 1 collaboration