Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

Autor: Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth

Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)

Abstract Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping cl

Externí odkaz: https://doaj.org/article/8292fe789fb04f60a6890327d1f87871

Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder

Autor: Kusumita Chhabra, Umamaheshwari Balakrishnan, Prakash Amboiram, Anil Jalan

Publikováno v: Journal of Neonatology. 36:153-156

Among the Zellweger spectrum disorders of peroxisomal biogenesis, Zellweger syndrome (ZS) is the most severe of identified disorders in this spectrum. Clinical features include facial dysmorphism, neuronal migration defects, failure to thrive, and he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::960293d673402f8c2bd666eebb4e7e51
https://doi.org/10.1177/09732179221100435

Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

Autor: Mettu Srinivas Reddy, Naresh Shanmugam, Anil Jalan, Sripriya Srinivas, Jagadeesh Menon, Mohamed Rela, Mukul Vij

Publikováno v: J Pediatr Genet

Liver cirrhosis in infancy can be secondary to various etiologies such as biliary atresia, familial cholestatic and metabolic disorders. Wolman's disease (WD) is a lysosomal storage disorder caused by the absence of lysosomal acid lipase enzyme activ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ee2f5496315dd674d9616bc08053d7
https://europepmc.org/articles/PMC9236733/

Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Autor: Roland Posset, Javier Blasco-Alonso, Daniela Karall, Frits A. Wijburg, Marie-Cécile Nassogne, L. Rubert, Monique Williams, C. De Laet, A.M. Jelsig, Aline Cano, Stephanie Grunewald, Tomas Honzik, Kimberly A. Chapman, Carlo Dionisi-Vici, E. Cortes I. Saladelafont, N. Lüsebrink, François Eyskens, Ans T. van der Ploeg, Friederike Hörster, Femke Molema, A. Wisniewska, P. de Lonlay, Stefan Kölker, E. Leao-Teles, Roshni Vara, Etienne Sokal, Brigitte Chabrol, Ivo Barić, V. Legros, Andrew P. Morris, Anil Jalan, Manuel Schiff, L. De Meirleir, A. B. Burlina, Johannes Häberle, Florian Gleich, F. Arnaudo, Persephone Augoustides-Savvopoulou, Calin Deleanu, Marshall L. Summar, K. Mention, D. Gil-Ortega, Ni-Chung Lee, Sandra Alves, Martin Lindner, Inmaculada Vives-Piñera, Annet M. Bosch, Allan M. Lund, Dimitris Rizopoulos, A. Garcia Cazorla, Luis Peña-Quintana, Diego Martinelli, Sabine Scholl-Bürgi, Paula Avram, A. Sarajlija, Wuh-Liang Hwu, Dries Dobbelaere, Matthias R. Baumgartner, Jiří Zeman, Peter Freisinger, Shirou Matsumoto, N. Thompson, Yin-Hsiu Chien, Anupam Chakrapani, Jolanta Sykut-Cegielska, M. Djordjevic, Peter Burgard

Publikováno v: Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M L, Chapman, K A, Lund, A M, Rizopoulos, D, Kölker, S, Williams, M, Hörster, F, Jelsig, A M, de Lonlay, P, Wijburg, F A, Bosch, A, Freisinger, P, Posset, R, Augoustides-Savvopoulou, P, Avram, P, Deleanu, C, Baumgartner, M R, Häberle, J, Blasco-Alonso, J, Burlina, A B, Rubert, L, Cazorla, A G, Saladelafont, E C I, Dionisi-Vici, C, Martinelli, D, Dobbelaere, D, Mention, K, Grünewald, S, Chakrapani, A, Hwu, W-L, Chien, Y-H, Lee, N-C, Karall, D, Scholl-Bürgi, S, de Laet, C, Matsumoto, S, de Meirleir, L, Schiff, M, Peña-Quintana, L, Djordjevic, M, Sarajlija, A, Sykut-Cegielska, J, Wisniewska, A, Leao-Teles, E, Alves, S, Additional individual contributors from E-IMD, Wijburg, F A, Vara, R, Vives Piñera, I, Gil-Ortega, D, Morris, A, Zeman, J, Honzik, T, Chabrol, B, Arnaudo, F, Cano, A, Thompson, N, Eyskens, F, Lindner, M, Lüsebrink, N, Jalan, A, Sokal, E, Legros, V, Nassogne, M-C & Barić, I 2019, ' Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment ', Molecular Genetics and Metabolism, vol. 126, no. 4, pp. 397-405 . https://doi.org/10.1016/j.ymgme.2019.02.003
Molecular genetics and metabolism, 126(4), 397-405. Academic Press Inc.
Molecular Genetics and Metabolism, 126(4), 397-405. Academic Press
Molecular Genetics and Metabolism, 126(4), 397-405. Academic Press Inc.
Molecular Genetics and Metabolism, (2019)
Molecular genetics and metabolism, Vol. 126, no. 4, p. 397-405 (2019)
Molecular genetics and metabolism

Background and aim Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abff0ac1c9b4779026f10a3301e0557
https://research.vumc.nl/en/publications/f695d216-9255-447b-b563-e5265cc72281

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Autor: Carlo Dionisi-Vici, Peter Burgard, E. Bauchart, Stefan Kölker, Daniela Karall, Manuel Schiff, K. Mention, Esmeralda Rodrigues, Jiří Zeman, Javier Blasco-Alonso, Hélène Ogier de Baulny, E. Leão Teles, Allan M. Lund, Angeles Garcia-Cazorla, Jolanta Sykut-Cegielska, M. Djordjevic, Hariklea Ioannou, Sylvia Grünewald, Carlos Ortez, Frits A. Wijburg, Vassili Valayannopoulos, M.T. Cardoso, Chris Mühlhausen, Anupam Chakrapani, Wanda Gradowska, Florian Gleich, Nicholas Thompson, Dries Dobbelaere, François Eyskens, Peter Freisinger, Pascale de Lonlay, Roshni Vara, Wuh-Liang Hwu, Victoria Riches, Johannes Häberle, Elisenda Cortès-Saladelafont, Matthias R. Baumgartner, Anaïs Brassier, Diego Martinelli, Gisela Haege, María L. Couce, Brigitte Chabrol, Ivo Barić, Corinne De Laet, Luis Peña-Quintana, Anil Jalan, Matthias Zielonka, Etienne Sokal, Linda De Meirleir, Roland Posset, John H. Walter, Elaine Murphy, Martin Lindner, Jean Baptiste Arnoux, Alberto Burlina, Monique Williams

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba270118f19ab99fd6ac67c6eaf4a62
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13449