Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

Authors: Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

Source: JIMD Reports, Vol 64, Iss 5, Pp 317-326 (2023)

Subject Terms: glycerol phenylbutyrate, hyperammonaemia, Ravicti, sodium benzoate, sodium phenylbutyrate, urea cycle disorders, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/cb4630541705478ab681b28299176d20

Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects

Authors: Abigail Whitehouse, Preeya Rehsi, Louise Hartley, Stephanie Grunewald, Berna Seker Yilmaz, Kelly Pegoretti Baruteau, Ayhan Yaman, Suren Thavagnanam, Julien Baruteau

Source: JIMD Reports, Vol 64, Iss 4, Pp 274-281 (2023)

Subject Terms: CblG, cobalamin, homocysteine, inherited metabolic disease, isolated remethylation defect, MTHFR, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/66c11afb48324ab3ad01b514a9c34170

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

Authors: 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

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

Authors: Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen

Source: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101020- (2023)

Subject Terms: Liver transplantation, Ornithine transcarbamylase deficiency, Metabolic correction, Neurological outcome, Growth, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000666; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/4b378179f00043a097ba2e977f075d5f

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders

Authors: Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

Source: JIMD Reports, Vol 63, Iss 2, Pp 137-145 (2022)

Subject Terms: glycerol phenylbutyrate, hyperammonaemia, liquid sodium benzoate, urea cycle disorders, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/15e4a12d942640829b4d39a2b6c7adb6

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

Authors: Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/3525e157591141978b324498de1df8af

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

Authors: Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: SRD5A3-CDG, steroid 5 alpha reductase deficiency, emerging phenotypic features, retinal dystrophy, congenital disorder of glycosylation, CDG, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.737094/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac

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

Authors: Jose I. R. Ciancio, Mark Furman, Siddharth Banka, Stephanie Grunewald

Source: JIMD Reports, Vol 49, Iss 1, Pp 43-47 (2019)

Subject Terms: Cubilin, Imerslund‐Gräsbeck syndrome, tubular proteinuria, vitamin B12 malabsorption, vitamin D deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/7aec8fbc282941f49877c204f0f051c8

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

Authors: Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald

Source: Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 55-62 (2016)

Subject Terms: Congenital Disorders of Glycosylation, Dystroglycanopathies, 2D DIGE, C1-esterase inhibitor, Glycoproteome, α1-Antitrypsin, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426916300143; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/c47930a423ea4b258138cf8dcc83a3f3

Congenital Disorders of Glycosylation from a Neurological Perspective

Authors: Justyna Paprocka, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska, Stephanie Grunewald

Source: Brain Sciences, Vol 11, Iss 1, p 88 (2021)

Subject Terms: congenital disorders of glycosylation, neurological symptoms, epilepsy, neuroimaging-stroke-like episodes, ataxia, autistic spectrum disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3425/11/1/88; https://doaj.org/toc/2076-3425

Access URL: https://doaj.org/article/fab9f28dc11b4ab0952a015173d770cf

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

Authors: Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Maureen Cleary, James Davison, Emma Footitt, Simon N. Waddington, Paul Gissen, Philippa Mills

Source: Metabolites, Vol 9, Iss 11, p 275 (2019)

Subject Terms: tandem mass spectrometry, dried blood spots, urea cycle, amino acids, argininosuccinate lyase, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-1989/9/11/275; https://doaj.org/toc/2218-1989

Access URL: https://doaj.org/article/b37464dd2746486582cd7f094e19969b

Galactose epimerase deficiency: lessons from the GalNet registry

Authors: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

Subject Terms: Galactose epimerase deficiency, Galactosemia type III, Galactosemias Network, Galactose-restricted diet, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6

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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Authors: Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers

Source: PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3248466?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/bb2cc49db65247d0babb9ce38d7ed980