Publications by authors named "Stephanie Grunewald"

60Publications

Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.

Neurology 2020 09 4;95(11):500-501. Epub 2020 Aug 4.

From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000010502DOI Listing
September 2020

Inborn errors of metabolism leading to neuronal migration defects.

J Inherit Metab Dis 2020 01 10;43(1):145-155. Epub 2019 Dec 10.

Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/jimd.12194DOI Listing
January 2020

Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation.

JIMD Rep 2019 Sep 26;49(1):43-47. Epub 2019 Jul 26.

Metabolic Medicine Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK.

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http://dx.doi.org/10.1002/jmd2.12072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718117PMC
September 2019

Liver neoplasms in methylmalonic aciduria: An emerging complication.

J Inherit Metab Dis 2019 09 17;42(5):793-802. Epub 2019 Jul 17.

Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, London, UK.

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http://dx.doi.org/10.1002/jimd.12143DOI Listing
September 2019

Bullying bystander behaviors: The role of coping effectiveness and the moderating effect of gender.

Scand J Psychol 2020 Feb 28;61(1):38-46. Epub 2019 Jun 28.

Indiana University, Bloomington, IN, USA.

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http://dx.doi.org/10.1111/sjop.12564DOI Listing
February 2020

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Liver transplantation for neonatal-onset citrullinemia.

Pediatr Transplant 2018 06 3;22(4):e13191. Epub 2018 May 3.

Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.

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http://dx.doi.org/10.1111/petr.13191DOI Listing
June 2018

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

JIMD Rep 2017 9;37:115-123. Epub 2017 Apr 9.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740047PMC
April 2017

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI Listing
April 2017

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

JIMD Rep 2017 26;33:11-17. Epub 2016 Jun 26.

Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/8904_2016_576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413449PMC
June 2016

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.

Mol Genet Metab Rep 2016 Jun 17;7:55-62. Epub 2016 Apr 17.

Centre for Inborn Errors of Metabolism, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK; Centre for Translational Omics, UCL Institute of Child Health & Great Ormond Street Hospital NHS Foundation Trust, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834675PMC
June 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

J Inherit Metab Dis 2015 May 29;38(3):445-57. Epub 2014 Oct 29.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation trust, St Mary's Hospital, 6th Floor, Oxford Road, Manchester, M 13 9WL, UK.

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http://dx.doi.org/10.1007/s10545-014-9778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108PMC
May 2015

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

J Proteome Res 2013 Jul 17;12(7):3471-9. Epub 2013 Jun 17.

Biochemistry Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, University College London, United Kingdom.

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http://dx.doi.org/10.1021/pr400328gDOI Listing
July 2013

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

J Inherit Metab Dis 2013 Nov 22;36(6):1039-47. Epub 2013 Feb 22.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, UCL ICH, Great Ormond Street, London, WC1N 3JH, UK,

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http://dx.doi.org/10.1007/s10545-013-9594-2DOI Listing
November 2013

Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.

Arch Ophthalmol 2012 Jun;130(6):712-9

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, England.

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http://archopht.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archophthalmol.2012.130DOI Listing
June 2012

An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

J Clin Endocrinol Metab 2012 Jun 6;97(6):E987-93. Epub 2012 Apr 6.

Division of Medicine, University College London, Rayne Building, University Street, London WC1E 6JF, United Kingsom.

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http://dx.doi.org/10.1210/jc.2012-1399DOI Listing
June 2012

How to use serum ammonia.

Arch Dis Child Educ Pract Ed 2012 Apr 18;97(2):72-7; answer to quiz pg 80. Epub 2011 Nov 18.

Metabolic Medicine Unit, Great Ormond Street Hospital for Children with UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/archdischild-2011-300194DOI Listing
April 2012

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

Biochim Biophys Acta 2009 Sep 14;1792(9):827-34. Epub 2009 Jan 14.

Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Trust with the UCL Institute of Child Health, London WC1N 3JH, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S092544390900007
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http://dx.doi.org/10.1016/j.bbadis.2009.01.003DOI Listing
September 2009

Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders.

Early Hum Dev 2007 Dec 24;83(12):825-30. Epub 2007 Oct 24.

Department for Metabolic Medicine, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.earlhumdev.2007.09.016DOI Listing
December 2007

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.

Clin Chem 2007 Feb 14;53(2):180-7. Epub 2006 Dec 14.

Department of Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2006.073940DOI Listing
February 2007

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

Glycobiology 2005 Dec 21;15(12):1312-9. Epub 2005 Jul 21.

Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/glycob/cwj017DOI Listing
December 2005

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Biochim Biophys Acta 2005 Jun 9;1741(1-2):156-64. Epub 2004 Dec 9.

Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Institute of Neurology, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2004.11.009DOI Listing
June 2005

Defective protein glycosylation in patients with cutis laxa syndrome.

Eur J Hum Genet 2005 Apr;13(4):414-21

Department of Pediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201361DOI Listing
April 2005

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

Clin Chem 2003 Nov;49(11):1839-45

University Medical Center Nijmegen, Laboratory of Pediatrics and Neurology, NL-6525 GC Nijmegen, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2003.022541DOI Listing
November 2003

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).

Lancet 2003 Apr;361(9367):1433-5

Department of Paediatrics University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/S0140-6736(03)13105-4DOI Listing
April 2003

Congenital disorders of glycosylation: a review.

Pediatr Res 2002 Nov;52(5):618-24

Children's University Hospital Essen, 45122 Essen, Germany.

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http://dx.doi.org/10.1203/00006450-200211000-00003DOI Listing
November 2002

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

Am J Med Genet 2002 Aug;111(2):195-201

Department of Pediatrics, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.10499DOI Listing
August 2002