I Knerr

Ina Knerr 20 collaborations

Ellen Crushell 6 collaborations

Joanne Hughes 4 collaborations

Eileen P Treacy 4 collaborations

Ritma Boruah 3 collaborations

Caoimhe Howard 3 collaborations

Annet M Bosch 3 collaborations

Didem Demirbas 3 collaborations

Gerard T Berry 3 collaborations

M Estela Rubio-Gozalbo 3 collaborations

Eileen Treacy 2 collaborations

Yvonne Rogers 2 collaborations

Philip Mayne 2 collaborations

Ahmad Ardeshir Monavari 2 collaborations

Stephanie Ryan 2 collaborations

Daniel O'Reilly 2 collaborations

Jane Rice 2 collaborations

Jenny McNulty 2 collaborations

Meabh O'Shea 2 collaborations

Eilish Twomey 2 collaborations

David Cassiman 2 collaborations

Aurélie Empain 2 collaborations

Matthias Gautschi 2 collaborations

Dorothea Möslinger 2 collaborations

Isabel A Rivera 2 collaborations

Sabine Scholl-Bürgi 2 collaborations

Anastasia Skouma 2 collaborations

Karolina M Stepien 2 collaborations

Ingrid Borovickova 2 collaborations

Fiona Boyle 2 collaborations

Can Ficicioglu 2 collaborations

A Monavari 2 collaborations

Anne Clark 1 collaboration

Christine Merrigan 1 collaboration

Ardeshir A Monavari 1 collaboration

Aoife Coughlan 1 collaboration

Roberto Colombo 1 collaboration

Jill Urquhart 1 collaboration

Ana Morais 1 collaboration

Begona Merinero 1 collaboration

Alfonso Oyarzabal 1 collaboration

Belén Pérez 1 collaboration

Simon A Jones 1 collaboration

Rahat Perveen 1 collaboration

Mary A Preece 1 collaboration

Giuseppe Zampino 1 collaboration

Sabrina MacKinnon 1 collaboration

Evangeline Wassmer 1 collaboration

Wyatt W Yue 1 collaboration

Ian Robinson 1 collaboration

Pilar Rodríguez-Pombo 1 collaboration

Simon E Olpin 1 collaboration

Siddharth Banka 1 collaboration

Tracey Conlon 1 collaboration

Nuala Murphy 1 collaboration

Andreea Stroiescu 1 collaboration

Ciara McDonnell 1 collaboration

Esme Dunne 1 collaboration

Claire A Murphy 1 collaboration

Grainne Kelleher 1 collaboration

Thomas Suttie 1 collaboration

Michael A Boyle 1 collaboration

Jennifer J Brady 1 collaboration

Afif El Khuffash 1 collaboration

Teresa Gudex 1 collaboration

Lydia Healy 1 collaboration

Jennifer McNulty 1 collaboration

Graham King 1 collaboration

B Molloy 1 collaboration

E R Jones 1 collaboration

N D Linhares 1 collaboration

P G Buckley 1 collaboration

T R Leahy 1 collaboration

B Lynch 1 collaboration

M D King 1 collaboration

K M Gorman 1 collaboration

Bianca Panis 1 collaboration

E Naomi Vos 1 collaboration

Ivo Barić 1 collaboration

Martijn C G J Brouwers 1 collaboration

Alberto Burlina 1 collaboration

David J Coman 1 collaboration

María L Couce 1 collaboration

Anibh M Das 1 collaboration

Olga Grafakou 1 collaboration

Stephanie Grunewald 1 collaboration

Sandra D K Kingma 1 collaboration

Elisa Leão-Teles 1 collaboration

Elaine Murphy 1 collaboration

Katrin Õunap 1 collaboration

Adriana Pané 1 collaboration

Sabrina Paci 1 collaboration

Rossella Parini 1 collaboration

Ida V D Schwartz 1 collaboration

Triantafyllia Sdogou 1 collaboration

Loai A Shakerdi 1 collaboration

Susan Waisbren 1 collaboration

Michael Riordan 1 collaboration

Atif Awan 1 collaboration

Kevin Carson 1 collaboration

Kim Hunter 1 collaboration

Bryan Lynch 1 collaboration

Amre Shahwan 1 collaboration

Véronique Rüfenacht 1 collaboration

Johannes Häberle 1 collaboration

Ahmad A Monavari 1 collaboration

Jason Foran 1 collaboration

Michael Moore 1 collaboration

Niamh McSweeney 1 collaboration

John Allen 1 collaboration

Bronwyn Power 1 collaboration

Aida Abedin 1 collaboration

Orla Purcell 1 collaboration

Ahmad Monavari 1 collaboration

Beate Peter 1 collaboration

Jennifer Davis 1 collaboration

Lizbeth Finestack 1 collaboration

Carol Stoel-Gammon 1 collaboration

Mark VanDam 1 collaboration

Laurel Bruce 1 collaboration

Yookyung Kim 1 collaboration

Linda Eng 1 collaboration

Sarah Cotter 1 collaboration

Emily Landis 1 collaboration

Sam Beames 1 collaboration

Nancy Scherer 1 collaboration

Delaney Williams 1 collaboration

Claire Schrock 1 collaboration

Nancy Potter 1 collaboration

Dearbhla Milner 1 collaboration

Tracey A Conlon 1 collaboration

Patricia E Fitzsimons 1 collaboration

Fidelma Kirby 1 collaboration

Sinéad Murphy 1 collaboration

Arundhati Dev-Borman 1 collaboration

John Stokes 1 collaboration

Declan O'Rourke 1 collaboration

Ciara Gillespie 1 collaboration

Itay Tokatly Latzer 1 collaboration

Mariarita Bertoldi 1 collaboration

Nenad Blau 1 collaboration

Melissa L DiBacco 1 collaboration

Sarah H Elsea 1 collaboration

Àngels García-Cazorla 1 collaboration

K Michael Gibson 1 collaboration

Andrea L Gropman 1 collaboration

Ellen Hanson 1 collaboration

Carolyn Hoffman 1 collaboration

Kathrin Jeltsch 1 collaboration

Natalia Juliá-Palacios 1 collaboration

Henry H C Lee 1 collaboration

Patrizia Malaspina 1 collaboration

Alice McConnell 1 collaboration

Thomas Opladen 1 collaboration

Mari Oppebøen 1 collaboration

Alexander Rotenberg 1 collaboration

Mark Walterfang 1 collaboration

Lee Wang-Tso 1 collaboration

Ron A Wevers 1 collaboration

Jean-Baptiste Roullet 1 collaboration

Phillip L Pearl 1 collaboration

Gary Lynch 1 collaboration

Clare M Reynolds 1 collaboration

Adam Green 1 collaboration

Gemma Parr 1 collaboration

Britt Derks 1 collaboration

Anibh Martin Das 1 collaboration

Uta Meyer 1 collaboration

M Luz Couce 1 collaboration

Natalia Juliá Palacios 1 collaboration

Mariela M De Los Santos De Pelegrin 1 collaboration

Philippe Labrune 1 collaboration

Patrick Verloo 1 collaboration

Saskia B Wortmann 1 collaboration

David J Timson 1 collaboration

S Giva 1 collaboration

J Finnegan 1 collaboration

P Ihidero 1 collaboration

G Maguire 1 collaboration

B Power 1 collaboration

M E Rubio-Gozalbo 1 collaboration

M Haskovic 1 collaboration

A M Bosch 1 collaboration

B Burnyte 1 collaboration

A I Coelho 1 collaboration

D Cassiman 1 collaboration

M L Couce 1 collaboration

C Dawson 1 collaboration

D Demirbas 1 collaboration

T Derks 1 collaboration

F Eyskens 1 collaboration

M T Forga 1 collaboration

S Grunewald 1 collaboration

J Häberle 1 collaboration

M Hochuli 1 collaboration

A Hubert 1 collaboration

H H Huidekoper 1 collaboration

P Janeiro 1 collaboration

J Kotzka 1 collaboration

P Labrune 1 collaboration

Y E Landau 1 collaboration

J G Langendonk 1 collaboration

D Möslinger 1 collaboration

D Müller-Wieland 1 collaboration

E Murphy 1 collaboration

K Õunap 1 collaboration

D Ramadza 1 collaboration

I A Rivera 1 collaboration

S Scholl-Buergi 1 collaboration

K M Stepien 1 collaboration

A Thijs 1 collaboration

C Tran 1 collaboration

R Vara 1 collaboration

G Visser 1 collaboration

R Vos 1 collaboration

M de Vries 1 collaboration

S E Waisbren 1 collaboration

M M Welsink-Karssies 1 collaboration

S B Wortmann 1 collaboration

M Gautschi 1 collaboration

E P Treacy 1 collaboration

G T Berry 1 collaboration

Mohamed A Elmonem 1 collaboration

Amaya Belanger-Quintana 1 collaboration

Andrea Bordugo 1 collaboration

Elisenda Cortès-Saladelafont 1 collaboration

Mounika Endrakanti 1 collaboration

Pilar Giraldo 1 collaboration

Sarah Catharina Grünert 1 collaboration

Neerja Gupta 1 collaboration

Madhulika Kabra 1 collaboration

Johannes Krämer 1 collaboration

Alice Kuster 1 collaboration

Elena Levtchenko 1 collaboration

Lock-Hock Ngu 1 collaboration

M Mar Rovira-Remisa 1 collaboration

Jörn Oliver Sass 1 collaboration

Jolanta Sykut-Cegielska 1 collaboration

Albina Tummolo 1 collaboration

Lambertus P van den Heuvel 1 collaboration

T R Juhlke 1 collaboration

R Van Geldern 1 collaboration

J A C Barth 1 collaboration

J Bendix 1 collaboration

A Bräuning 1 collaboration

E Garel 1 collaboration

M Häusser 1 collaboration

F Huneau 1 collaboration

S Santoni 1 collaboration

S Szymczak 1 collaboration

K Trachte 1 collaboration

Quinton S Katler 1 collaboration

Nathan Paull 1 collaboration

Sneh Patel 1 collaboration

Michael Adams 1 collaboration

Mehmet Cihan Balci 1 collaboration

Angela DeLaO 1 collaboration

Julianna Edman 1 collaboration

Melanie Goff 1 collaboration

Stephanie Hacker 1 collaboration

Kristen Lancaster 1 collaboration

Hong Li 1 collaboration

Bryce A Mendelsohn 1 collaboration

Brandi Nichols 1 collaboration

Wladimir Bocca Vieira de Rezende Pinto 1 collaboration

Júlio César Rocha 1 collaboration

Michael Saad-Naguib 1 collaboration

Sabine Scholl-Buergi 1 collaboration

Sarah Searcy 1 collaboration

Paulo Victor Sgobbi de Souza 1 collaboration

Angela Wittenauer 1 collaboration

Judith L Fridovich-Keil 1 collaboration

E B Forman 1 collaboration

S A Lynch 1 collaboration

J Hughes 1 collaboration

R Boruah 1 collaboration

A Green 1 collaboration

E Crushell 1 collaboration

Charlotte Gehin 1 collaboration

Museer A Lone 1 collaboration

Winston Lee 1 collaboration

Laura Capolupo 1 collaboration

Sylvia Ho 1 collaboration

Adekemi M Adeyemi 1 collaboration

Erica H Gerkes 1 collaboration

Alexander Pa Stegmann 1 collaboration

Estrella López-Martín 1 collaboration

Eva Bermejo-Sánchez 1 collaboration

Beatriz Martínez-Delgado 1 collaboration

Christiane Zweier 1 collaboration

Cornelia Kraus 1 collaboration

Bernt Popp 1 collaboration

Vincent Strehlow 1 collaboration

Daniel Gräfe 1 collaboration

Eppie R Jones 1 collaboration

Stefano Zamuner 1 collaboration

Luciano A Abriata 1 collaboration

Vidya Kunnathully 1 collaboration

Brandon E Moeller 1 collaboration

Anthony Vocat 1 collaboration

Samuel Rommelaere 1 collaboration

Jean-Philippe Bocquete 1 collaboration

Evelyne Ruchti 1 collaboration

Greta Limoni 1 collaboration

Marine Van Campenhoudt 1 collaboration

Samuel Bourgeat 1 collaboration

Petra Henklein 1 collaboration

Christian Gilissen 1 collaboration

Bregje W van Bon 1 collaboration

Rolph Pfundt 1 collaboration

Marjolein H Willemsen 1 collaboration

Jolanda H Schieving 1 collaboration

Emanuela Leonardi 1 collaboration

Fiorenza Soli 1 collaboration

Alessandra Murgia 1 collaboration

Hui Guo 1 collaboration

Qiumeng Zhang 1 collaboration

Kun Xia 1 collaboration

Christina R Fagerberg 1 collaboration

Christoph P Beier 1 collaboration

Martin J Larsen 1 collaboration

Irene Valenzuela 1 collaboration

Paula Fernández-Álvarez 1 collaboration

Shiyi Xiong 1 collaboration

Robert Śmigiel 1 collaboration

Vanesa López-González 1 collaboration

Lluís Armengol 1 collaboration

Manuela Morleo 1 collaboration

Angelo Selicorni 1 collaboration

Annalaura Torella 1 collaboration

Moira Blyth 1 collaboration

Nicola S Cooper 1 collaboration

Valerie Wilson 1 collaboration

Renske Oegema 1 collaboration

Yvan Herenger 1 collaboration

Aurore Garde 1 collaboration

Ange-Line Bruel 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Alexis Br Maddocks 1 collaboration

Jennifer M Bain 1 collaboration

Musadiq A Bhat 1 collaboration

Gregory Costain 1 collaboration

Peter Kannu 1 collaboration

Ashish Marwaha 1 collaboration

Neena L Champaigne 1 collaboration

Michael J Friez 1 collaboration

Ellen B Richardson 1 collaboration

Vykuntaraju K Gowda 1 collaboration

Varunvenkat M Srinivasan 1 collaboration

Yask Gupta 1 collaboration

Tze Y Lim 1 collaboration

Simone Sanna-Cherchi 1 collaboration

Bruno Lemaitre 1 collaboration

Toshiyuki Yamaji 1 collaboration

Kentaro Hanada 1 collaboration

John E Burke 1 collaboration

Ana Marjia Jakšić 1 collaboration

Brian D McCabe 1 collaboration

Paolo De Los Rios 1 collaboration

Thorsten Hornemann 1 collaboration

Giovanni D'Angelo 1 collaboration

Vincenzo A Gennarino 1 collaboration

Affiliations

Publications (25)

Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels.

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.

Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.

A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016-2020).

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the

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

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland.

Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia.

Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment.

Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.

Autonomic instability, arrhythmia and visual impairment in a new presentation of

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders.

Galactokinase deficiency: lessons from the GalNet registry.

Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences

The natural history of classic galactosemia: lessons from the GalNet registry.

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.

Temporal offset between precipitation and water uptake of Mediterranean pine trees varies with elevation and season.

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Réseau de co-auteurs