Works matching AU Stockler, Sylvia

Results: 74

Iron deficiency and common neurodevelopmental disorders—A scoping review.

Published in:

PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0273819

By:

McWilliams, Scout;
Singh, Ishmeet;
Leung, Wayne;
Stockler, Sylvia;
Ipsiroglu, Osman S.

Publication type:

Article

Carnitine deficiency, hearing loss and hydrochlorothiazide‐induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3139, doi. 10.1002/ajmg.a.62927

By:

Mattman, Andre;
Masoudi, Raha;
Stockler‐Ipsiroglu, Sylvia;
Zivkovic, Irena;
Lehman, Anna;
Dionne, Janis M.

Publication type:

Article

Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility.

Published in:

Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2023.1344090

By:

Gjervan, Sophia C.;
Ozgoren, Oguz K.;
Gow, Alexander;
Stockler-Ipsiroglu, Sylvia;
Pouladi, Mahmoud A.

Publication type:

Article

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.

Published in:

2020

By:

Pugliese, Michael;
Tingley, Kylie;
Chow, Andrea;
Pallone, Nicole;
Smith, Maureen;
Rahman, Alvi;
Chakraborty, Pranesh;
Geraghty, Michael T.;
Irwin, Julie;
Tessier, Laure;
Nicholls, Stuart G.;
Offringa, Martin;
Butcher, Nancy J.;
Iverson, Ryan;
Clifford, Tammy J.;
Stockler, Sylvia;
Hutton, Brian;
Paik, Karen;
Tao, Jessica;
Skidmore, Becky

Publication type:

journal article

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293

By:

Janer, Alexandre;
van Karnebeek, Clara DM;
Sasarman, Florin;
Antonicka, Hana;
Al Ghamdi, Malak;
Shyr, Casper;
Dunbar, Mary;
Stockler-Ispiroglu, Sylvia;
Ross, Colin J;
Vallance, Hilary;
Dionne, Janis;
Wasserman, Wyeth W;
Shoubridge, Eric A

Publication type:

Article

Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

Published in:

2021

By:

Howie, Alison H.;
Tingley, Kylie;
Inbar-Feigenberg, Michal;
Mitchell, John J.;
Butcher, Nancy J.;
Offringa, Martin;
Smith, Maureen;
Angel, Kim;
Gentle, Jenifer;
Wyatt, Alexandra;
Campeau, Philippe M.;
Chan, Alicia;
Chakraborty, Pranesh;
El Turk, Farah;
Mamak, Eva;
Mhanni, Aizeddin;
Skidmore, Becky;
Sparkes, Rebecca;
Stockler, Sylvia;
Potter, Beth K.

Publication type:

corrected article

Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

Published in:

2021

By:

Howie, Alison H.;
Tingley, Kylie;
Inbar-Feigenberg, Michal;
Mitchell, John J.;
Butcher, Nancy J.;
Offringa, Martin;
Smith, Maureen;
Angel, Kim;
Gentle, Jenifer;
Wyatt, Alexandra;
Campeau, Philippe M.;
Chan, Alicia;
Chakraborty, Pranesh;
El Turk, Farah;
Mamak, Eva;
Mhanni, Aizeddin;
Skidmore, Becky;
Sparkes, Rebecca;
Stockler, Sylvia;
Potter, Beth K.

Publication type:

Literature Review

Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

Published in:

2021

By:

Howie, Alison H.;
Tingley, Kylie;
Inbar-Feigenberg, Michal;
Mitchell, John J.;
Butcher, Nancy J.;
Offringa, Martin;
Smith, Maureen;
Angel, Kim;
Gentle, Jenifer;
Wyatt, Alexandra;
Campeau, Philippe M.;
Chan, Alicia;
Chakraborty, Pranesh;
El Turk, Farah;
Mamak, Eva;
Mhanni, Aizeddin;
Skidmore, Becky;
Sparkes, Rebecca;
Stockler, Sylvia;
Potter, Beth K.

Publication type:

journal article

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 260, doi. 10.1038/6772

By:

Schuelke, Markus;
Smeitink, Jan;
Mariman, Edwin;
Loeffen, Jan;
Plecko, Barbara;
Trijbels, Frans;
Stöckler-Ipsiroglu, Sylvia;
Heuvel, Lambert van den

Publication type:

Article

Introduction of the TIDE Protocol to screen children for treatable intellectual disability: First evaluation of protocol use by community pediatricians in British Columbia.

Published in:

British Columbia Medical Journal, 2015, v. 57, n. 9, p. 387

By:

Stockler-Ipsiroglu, Sylvia;
Nahdi, Suud;
van Karnebeek, Clara

Publication type:

Article

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre.

Published in:

Canadian Journal of Neurological Sciences, 2018, v. 45, n. 2, p. 206, doi. 10.1017/cjn.2017.271

By:

van Karnebeek, Clara D.M.;
Dunbar, Mary;
Egri, Csilla;
Sayson, Bryan;
Milea, Janetta;
Stockler-Ipsiroglu, Sylvia;
Huh, Linda;
Connolly, Mary B.;
Horvath, Gabriella A.

Publication type:

Article

Diagnostic Value of a Multidisciplinary Clinic for Intellectual Disability.

Published in:

Canadian Journal of Neurological Sciences, 2014, v. 41, n. 3, p. 333, doi. 10.1017/S0317167100017273

By:

van Karnebeek, Clara;
Murphy, Tyler;
Giannasi, Wynona;
Thomas, Marion;
Connolly, Mary;
Stockler-Ipsiroglu, Sylvia

Publication type:

Article

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy.

Published in:

Canadian Journal of Neurological Sciences, 2012, v. 39, n. 4, p. 516, doi. 10.1017/S0317167100014050

By:

Alfadhel, Majid;
Sirrs, Sandra;
Waters, Paula J.;
Szeitz, András;
Struys, Eduard;
Coulter-Mackie, Marion;
Stockler-Ipsiroglu, Sylvia

Publication type:

Article

Vitamin B<sub>6</sub> Dependent Seizures.

Published in:

Canadian Journal of Neurological Sciences, 2009, v. 36, p. S73

By:

Plecko, Barbara;
Stöckler, Sylvia

Publication type:

Article

Metabolic Epilepsies: Approaches to a Diagnostic Challenge.

Published in:

Canadian Journal of Neurological Sciences, 2009, v. 36, p. S67

By:

Stöckler-Ipsiroglu, Sylvia;
Plecko, Barbara

Publication type:

Article

Disruptive Behaviors and Intellectual Disability: Creating a New Script.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.851490

By:

Chan, Melvin Chin-Hao;
Campbell, Mackenzie;
Beyzaei, Nadia;
Stockler, Sylvia;
Ipsiroglu, Osman S.

Publication type:

Article

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1 -Related Dysostosis Multiplex.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9121, doi. 10.3390/ijms21239121

By:

Yuskiv, Nataliya;
Higaki, Katsumi;
Stockler-Ipsiroglu, Sylvia

Publication type:

Article

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 482, doi. 10.1111/j.1399-0004.1998.tb02600.x

By:

Holzinger, Andreas;
Maier, Esther;
Stöckler-lpsiroglu, Sylvia;
Braun, Andreas;
Roscher, Adelbert A.

Publication type:

Article

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.

Published in:

2017

By:

Potter, Beth K.;
Hutton1,2, Brian;
Clifford, Tammy J.;
Pallone, Nicole;
Smith, Maureen;
Stockler, Sylvia;
Chakraborty, Pranesh;
Barbeau, Pauline;
Garritty, Chantelle M.;
Pugliese, Michael;
Rahman, Alvi;
Skidmore, Becky;
Tessier, Laure;
Tingley, Kylie;
Coyle, Doug;
Greenberg, Cheryl R.;
Korngut, Lawrence;
MacKenzie, Alex;
Mitchell, John J.;
Nicholls, Stuart

Publication type:

journal article

Creatine metabolism in combined methylmalonic aciduria and homocystinuria.

Published in:

Annals of Neurology, 2005, v. 57, n. 4, p. 557

By:

Olaf A. Bodamer;
Trilochan Sahoo;
Arthur L. Beaudet;
William E. O'Brien;
Teodoro Bottiglieri;
Sylvia Stöckler‐Ipsiroglu;
Conrad Wagner;
Fernando Scaglia

Publication type:

Article

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

Published in:

2001

By:

Loeffen, Jan;
Elpeleg, Orly;
Smeitink, Jan;
Smeets, Roel;
Stöckler-Ipsiroglu, Sylvia;
Mandel, Hanna;
Sengers, Rob;
Trijbels, Frans;
Van Den Heuvel, Lambert;
Loeffen, J;
Elpeleg, O;
Smeitink, J;
Smeets, R;
Stöckler-Ipsiroglu, S;
Mandel, H;
Sengers, R;
Trijbels, F;
van den Heuvel, L

Publication type:

journal article

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

Published in:

2000

By:

Plecko, Barbara;
Stöckler-Ipsiroglu, Sylvia;
Paschke, Eduard;
Erwa, Wolfgang;
Struys, Eduard A.;
Jakobs, Cornelis;
Plecko, B;
Stöckler-Ipsiroglu, S;
Paschke, E;
Erwa, W;
Struys, E A;
Jakobs, C

Publication type:

journal article

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

Published in:

2000

By:

Van Der Knaap, Marjo S.;
Verhoeven, Nanda M.;
Maaswinkel-Mooij, Petra;
Pouwels, Petra J. W.;
Onkenhout, Wim;
Peeters, Els A. J.;
Stöckler-Ipsiroglu, Sylvia;
Jakobs, Cornelius;
van der Knaap, M S;
Verhoeven, N M;
Maaswinkel-Mooij, P;
Pouwels, P J;
Onkenhout, W;
Peeters, E A;
Stöckler-Ipsiroglu, S;
Jakobs, C

Publication type:

journal article

Cerebral Folate Deficiency and Folinic Acid Treatment in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) Syndrome.

Published in:

2007

By:

Stockler-Ipsiroglu, Sylvia

Publication type:

Letter

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 251, doi. 10.1007/s10048-021-00652-7

By:

van Karnebeek, Clara D.;
Blydt-Hansen, Ingrid;
Matthews, Allison M.;
Avramovic, Vladimir;
Price, Magda;
Drogemoller, Britt;
Shyr, Casper;
Lee, Jessica;
Mwenifumbo, Jill;
Ghani, Aisha;
Stockler, Sylvia;
Friedman, Jan M.;
Lehman, Anna;
Ross, Colin J.;
Wasserman, Wyeth W.;
Tarailo-Graovac, Maja;
Horvath, Gabriella A.

Publication type:

Article

Challenging sleep-wake behaviors reported in informal, conversational interviews of caregivers of children with fetal alcohol spectrum disorder.

Published in:

International Journal of Developmental Disabilities, 2018, v. 64, n. 2, p. 65, doi. 10.1080/20473869.2016.1229395

By:

Spruyt, Karen;
Ipsiroglu, Osman;
Stockler, Sylvia;
Reynolds, James N.

Publication type:

Article

Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes.

Published in:

2002

By:

Fatemi, Ali;
Item, Chike;
Stöckler-Ipsiroglu, Sylvia;
Ipsiroglu, Osman;
Sperl, Wolfgang;
Patsch, Wolfgang;
Strobl, Wolfgang

Publication type:

journal article

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

Published in:

2001

By:

Möslinger, Dorothea;
Stöckler-Ipsiroglu, Sylvia;
Scheibenreiter, Susanne;
Tiefenthaler, Monika;
Mühl, Adolf;
Seidl, Rainer;
Strobl, Wolfgang;
Plecko, Barbara;
Suormala, Terttu;
Baumgartner, E. Regula;
Möslinger, D;
Stöckler-Ipsiroglu, S;
Scheibenreiter, S;
Tiefenthaler, M;
Mühl, A;
Seidl, R;
Strobl, W;
Plecko, B;
Suormala, T;
Baumgartner, E R

Publication type:

journal article

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.

Published in:

2014

By:

van Karnebeek, Clara D. M.;
Stockler-Ipsiroglu, Sylvia

Publication type:

Opinion

The genotypic and phenotypic spectrum of PIGA deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0243-8

By:

Tarailo-Graovac, Maja;
Sinclair, Graham;
Stockler-Ipsiroglu, Sylvia;
Van Allen, Margot;
Rozmus, Jacob;
Shyr, Casper;
Biancheri, Roberta;
Tracey Oh;
Sayson, Bryan;
Lafek, Mirafe;
Ross, Colin J.;
Robinson, Wendy P.;
Wasserman, Wyeth W.;
Rossi, Andrea;
van Karnebeek, Clara D. M.

Publication type:

Article

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 197, doi. 10.1186/s13023-014-0197-2

By:

Leach, Emma L;
Shevell, Michael;
Bowden, Kristin;
Stockler-Ipsiroglu, Sylvia;
van Karnebeek, Clara DM

Publication type:

Article

Single Point Mutation in Rabenosyn-5 in a Female with Intractable Seizures and Evidence of Defective Endocytotic Trafficking.

Published in:

2014

By:

Stockler, Sylvia;
Corvera, Silvia;
Lambright, David;
Fogarty, Kevin;
Nosova, Ekaterina;
Leonard, Deborah;
Steinfeld, Robert;
Ackerley, Cameron;
Shyr, Casper;
Au, Nicolas;
Selby, Kathrin;
Van Allen, Margot;
Vallance, Hilary;
Wevers, Ron;
Watkins, David;
Rosenblatt, David;
Ross, Colin J.;
Conibear, Elizabeth;
Wasserman, Wyeth;
Karnebeek, Clara van

Publication type:

Case Study

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.

Published in:

2014

By:

Leach, Emma L;
Shevell, Michael;
Bowden, Kristin;
Stockler-Ipsiroglu, Sylvia;
van Karnebeek, Clara

Publication type:

Journal Article

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.

Published in:

2014

By:

Stockler, Sylvia;
Corvera, Silvia;
Lambright, David;
Fogarty, Kevin;
Nosova, Ekaterina;
Leonard, Deborah;
Steinfeld, Robert;
Ackerley, Cameron;
Shyr, Casper;
Au, Nicolas;
Selby, Kathrin;
van Allen, Margot;
Vallance, Hilary;
Wevers, Ron;
Watkins, David;
Rosenblatt, David;
Ross, Colin J;
Conibear, Elizabeth;
Wasserman, Wyeth;
van Karnebeek, Clara

Publication type:

journal article

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

Published in:

2012

By:

van Karnebeek, Clara D M;
Houben, Roderick F A;
Lafek, Mirafe;
Giannasi, Wynona;
Stockler, Sylvia

Publication type:

journal article

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 47, doi. 10.1186/1750-1172-7-47

By:

van Karnebeek, Clara D. M.;
Houben, Roderick F. A.;
Lafek, Mirafe;
Giannasi, Wynona;
Stockler, Sylvia

Publication type:

Article

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Published in:

BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0323-x

By:

Khangura, Sara D.;
Karaceper, Maria D.;
Trakadis, Yannis;
Mitchell, John J.;
Chakraborty, Pranesh;
Tingley, Kylie;
Coyle, Doug;
Grosse, Scott D.;
Kronick, Jonathan B.;
Laberge, Anne-Marie;
Little, Julian;
Prasad, Chitra;
Sikora, Lindsey;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N.;
Stockler, Sylvia;
Wilson, Brenda J.;
Wilson, Kumanan;
Zayed, Reem

Publication type:

Article

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Published in:

2015

By:

Khangura, Sara D;
Karaceper, Maria D;
Trakadis, Yannis;
Mitchell, John J;
Chakraborty, Pranesh;
Tingley, Kylie;
Coyle, Doug;
Grosse, Scott D;
Kronick, Jonathan B;
Laberge, Anne-Marie;
Little, Julian;
Prasad, Chitra;
Sikora, Lindsey;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N;
Stockler, Sylvia;
Wilson, Brenda J;
Wilson, Kumanan;
Zayed, Reem

Publication type:

journal article

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12806

By:

Turki, Abrar;
Stockler‐Ipsiroglu, Sylvia;
Sirrs, Sandra;
Branov, Jennifer;
Bosdet, Taryn;
Elango, Rajavel

Publication type:

Article

Developments in evidence creation for treatments of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 88, doi. 10.1002/jimd.12315

By:

Stockler‐Ipsiroglu, Sylvia;
Potter, Beth K.;
Yuskiv, Nataliya;
Tingley, Kylie;
Patterson, Marc;
Karnebeek, Clara

Publication type:

Article

Impact of enteral arginine supplementation on lysine metabolism in humans: A proof‐of‐concept for lysine‐related inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 952, doi. 10.1002/jimd.12233

By:

Schmidt, Zoe;
Murthy, Gayathri;
Ennis, Madeleine;
Stockler‐Ipsiroglu, Sylvia;
Elango, Rajavel

Publication type:

Article

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1

By:

Khangura, Sara;
Tingley, Kylie;
Chakraborty, Pranesh;
Coyle, Doug;
Kronick, Jonathan;
Laberge, Anne-Marie;
Little, Julian;
Miller, Fiona;
Mitchell, John;
Prasad, Chitra;
Siddiq, Shabnaz;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy;
Stockler, Sylvia;
Trakadis, Yannis;
Wilson, Brenda;
Wilson, Kumanan;
Potter, Beth

Publication type:

Article

Cultural aspects in the management of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1147, doi. 10.1007/s10545-012-9455-4

By:

Stockler, Sylvia;
Moeslinger, Dorothea;
Herle, Marion;
Wimmer, Banu;
Ipsiroglu, Osman

Publication type:

Article

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 355, doi. 10.1007/s10545-011-9369-6

By:

Clarke, Lorne;
Hemmelgarn, Harmony;
Colobong, Karen;
Thomas, Anita;
Stockler, Sylvia;
Casey, Robin;
Chan, Alicia;
Fernoff, Paul;
Mitchell, John

Publication type:

Article

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in- vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 133, doi. 10.1007/s10545-011-9357-x

By:

Engel, Katharina;
Vuissoz, Jean-Marc;
Eggimann, Sandra;
Groux, Murielle;
Berning, Christoph;
Hu, Liyan;
Klaus, Vera;
Moeslinger, Dorothea;
Mercimek-Mahmutoglu, Saadet;
Stöckler, Sylvia;
Wermuth, Bendicht;
Häberle, Johannes;
Nuoffer, Jean-Marc

Publication type:

Article

Iron Deficiency and Sleep/Wake Behaviors: A Scoping Review of Clinical Practice Guidelines—How to Overcome the Current Conundrum?

Published in:

Nutrients, 2024, v. 16, n. 15, p. 2559, doi. 10.3390/nu16152559

By:

McWilliams, Scout;
Hill, Olivia;
Ipsiroglu, Osman S.;
Clemens, Stefan;
Weber, Alexander Mark;
Chen, Michael;
Connor, James;
Felt, Barbara T.;
Manconi, Mauro;
Mattman, Andre;
Silvestri, Rosalia;
Simakajornboon, Narong;
Smith, Susan M.;
Stockler, Sylvia

Publication type:

Article

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.

Published in:

JAMA Network Open, 2024, v. 7, n. 7, p. e2420842, doi. 10.1001/jamanetworkopen.2024.20842

By:

Weymann, Deirdre;
Buckell, John;
Fahr, Patrick;
Loewen, Rosalie;
Ehman, Morgan;
Pollard, Samantha;
Friedman, Jan M.;
Stockler-Ipsiroglu, Sylvia;
Elliott, Alison M.;
Wordsworth, Sarah;
Buchanan, James;
Regier, Dean A.

Publication type:

Article

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Published in:

Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8

By:

Chow, Andrea J.;
Pugliese, Michael;
Tessier, Laure A.;
Chakraborty, Pranesh;
Iverson, Ryan;
Coyle, Doug;
Kronick, Jonathan B.;
Wilson, Kumanan;
Hayeems, Robin;
Al-Hertani, Walla;
Inbar-Feigenberg, Michal;
Jain-Ghai, Shailly;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J.;
Prasad, Chitra;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N.;
Stockler, Sylvia

Publication type:

Article

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2571, doi. 10.1002/ajmg.a.34220

By:

Alfadhel, Majid;
Lillquist, Yolanda P.;
Davis, Cynthia;
Junker, Anne K.;
Stockler-Ipsiroglu, Sylvia

Publication type:

Article

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

Published in:

2021

By:

Riedhammer, Korbinian M;
Stockler, Sylvia;
Ploski, Rafal;
Wenzel, Maren;
Adis-Dutschmann, Burkhard;
Ahting, Uwe;
Alhaddad, Bader;
Blaschek, Astrid;
Haack, Tobias B;
Kopajtich, Robert;
Lee, Jessica;
Pienkowski, Victor Murcia;
Pollak, Agnieszka;
Szymanska, Krystyna;
Tarailo-Graovac, Maja;
van der Lee, Robin;
Karnebeek, Clara D van;
Meitinger, Thomas;
Krägeloh-Mann, Ingeborg;
Vill, Katharina

Publication type:

journal article