Saikat Santra: search on Z-Library

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1

Lysosomal disorders

Santra, Saikat, Ramaswami, Uma

Journal:

Paediatrics and Child Health

Year:

2015

Language:

english

File:

PDF, 288 KB

english, 2015

2

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, M

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 633 KB

english, 2017

3

PAM-4 based long-range free-space-optics communication system with self injection locked QD-LD and RS codec

Mukherjee, Rahul, Mallick, Khaleda, Kuiri, Bibhatsu, Santra, Saikat, Dutta, Bubai, Mandal, Paulomi, Patra, Ardhendu Sekhar

Journal:

Optics Communications

Year:

2020

File:

PDF, 1.47 MB

2020

4

Clinical disease progression and biomarkers in NiemannâPick disease type C: a prospective cohort study

Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, GrÃ¸nborg, Sabine, HÃ©ron, BÃ©nÃ©dicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.12 MB

2020

5

Assembly of Dipicolinic Acid by Alkali-Metal Cations

Saikat Santra, Babulal Das, Jubaraj B. Baruah

Journal:

Journal of Chemical Crystallography

Year:

2011

Language:

english

File:

PDF, 2.04 MB

english, 2011

6

Elevated pterins in cerebral spinal fluid– biochemical marker of Aicardi–Goutières syndrome

Evangeline Wassmer, Jaspal Singh, Shakti Agrawal, Saikat Santra, Yanick J Crow

Journal:

Developmental Medicine & Child Neurology

Year:

2009

Language:

english

File:

PDF, 93 KB

english, 2009

7

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1

Santra, Saikat, Baumann, Ulrich

Journal:

Expert Opinion on Pharmacotherapy

Year:

2008

Language:

english

File:

PDF, 234 KB

english, 2008

8

Combined Solution-Phase, Solid-Phase and Phase-Interface Anion Binding and Extraction Studies by a Simple Tripodal Thiourea Receptor

Bose, Purnandhu, Dutta, Ranjan, Santra, Saikat, Chowdhury, Bijit, Ghosh, Pradyut

Journal:

European Journal of Inorganic Chemistry

Year:

2012

Language:

english

File:

PDF, 1007 KB

english, 2012

9

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W., Melchionda, Laura, Blakely, Emma L., Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper,

Journal:

Year:

2013

Language:

english

File:

PDF, 1000 KB

english, 2013

10

Cu II -Templated Threading of a Bis-amide-tris-amine Macrocycle by Substituted 2,2′-Bipyridyl Derivatives Assisted by Strong π-π Stacking and Second-Sphere H-Bonding Interactions (Eur. J. Inorg. Chem. 12/2014)

Saha, Subrata, Santra, Saikat, Ghosh, Pradyut

Journal:

European Journal of Inorganic Chemistry

Year:

2014

Language:

english

File:

PDF, 7.97 MB

english, 2014

11

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

van Karnebeek, Clara D., Sly, William S., Ross, Colin J., Salvarinova, Ramona, Yaplito-Lee, Joy, Santra, Saikat, Shyr, Casper, Horvath, Gabriella A., Eydoux, Patrice, Lehman, Anna M., Bernard, Virgini

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.10 MB

english, 2014

12

Cu II -Templated Threading of a Bis-amide-tris-amine Macrocycle by Substituted 2,2′-Bipyridyl Derivatives Assisted by Strong π-π Stacking and Second-Sphere H-Bonding Interactions

Saha, Subrata, Santra, Saikat, Ghosh, Pradyut

Journal:

European Journal of Inorganic Chemistry

Year:

2014

Language:

english

File:

PDF, 1.14 MB

english, 2014

13

Investigational intrathecal (IT) enzyme replacement therapy for the severe form of Hunter syndrome (mucopolysaccharidosis type II, MPS II)

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Perry, Victor, Santra, Saikat, Solanki, Guirish A., Wang, Nan, Mascelli,

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

14

OBITUARY

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Perry, Victor, Santra, Saikat, Solanki, Guirish A., Wang, Nan, Mascelli,

Journal:

Year:

1938

Language:

english

File:

PDF, 848 KB

english, 1938

15

Fucosidosis: the UK experience reflecting the natural history of this rare disorder

Jameson, Elisabeth, Breen, Catherine, Broomfield, Alexander, Santra, Saikat, Pierre, Germaine, Lachmann, Robin, Stewart, Fiona, Tylee, Karen, Church, Heather, Vellodi, Ashok, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 163 KB

english, 2014

16

I-cell disease: The experience of six centres

Jameson, Elisabeth, Wilson, Barbara, Santra, Saikat, Broomfield, Alexander, McElligott, Fiona, Crushell, Ellen, Stewart, Fiona, Pierre, Germaine, Powers, Victoria, Wraith, Ed, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

17

Intellectual functioning in children with MPS VI

Kearney, Shauna, Horton, Johan, Stewart, Catherine, Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 114 KB

english, 2013

18

[2]Rotaxane with Multiple Functional Groups

Saha, Subrata, Santra, Saikat, Akhuli, Bidyut, Ghosh, Pradyut

Journal:

Journal of Organic Chemistry

Year:

2014

Language:

english

File:

PDF, 584 KB

english, 2014

19

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

Hartill, Verity L., Tysoe, Carolyn, Manning, Nigel, Dobbie, Angus, Santra, Saikat, Walter, John, Caswell, Richard, Koster, Janet, Waterham, Hans, Hobson, Emma

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 887 KB

english, 2014

20

Cu II -Templated Threading of a Bis-amide-tris-amine Macrocycle by Substituted 2,2′-Bipyridyl Derivatives Assisted by Strong π-π Stacking and Second-Sphere H-Bonding Interactions

Saha, Subrata, Santra, Saikat, Ghosh, Pradyut

Journal:

European Journal of Inorganic Chemistry

Year:

2014

Language:

english

File:

PDF, 392 KB

english, 2014

21

Amino-ether macrocycle that forms Cu II templated threaded heteroleptic complexes: a detailed selectivity, structural and theoretical investigations

Santra, Saikat, Mukherjee, Sandip, Bej, Somnath, Saha, Subrata, Ghosh, Pradyut

Journal:

Dalton Transactions

Year:

2015

Language:

english

File:

PDF, 10.27 MB

english, 2015

22

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Muenzer, Joseph, Hendriksz, Christian J., Fan, Zheng, Vijayaraghavan, Suresh, Perry, Victor, Santra, Saikat, Solanki, Guirish A., Mascelli, Mary Ann, Pan, Luying, Wang, Nan, Sciarappa, Kenneth, Barbie

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 679 KB

english, 2015

23

[2]Pseudorotaxane Composed of Heteroditopic Macrobicycle and Pyridine N -Oxide Based Axle: Recognition Site Dependent Axle Orientation

Saha, Subrata, Santra, Saikat, Ghosh, Pradyut

Journal:

Organic Letters

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

24

The Micronutrient Status of Patients with Phenylketonuria on Dietary Treatment: An Ongoing Challenge

Evans, Sharon, Daly, Anne, MacDonald, John, Preece, Mary Anne, Santra, Saikat, Vijay, Suresh, Chakrapani, Anupam, MacDonald, Anita

Journal:

Annals of Nutrition & Metabolism

Year:

2014

Language:

english

File:

PDF, 127 KB

english, 2014

25

A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia

Caridi, Gianluca, Dagnino, Monica, Di Duca, Marco, Santra, Saikat, Ball, Sarah, Sulaiman, Raashda A., Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 110 KB

english, 2012

26

Antibody response to investigational intrathecal enzyme replacement therapy with idursulfase-IT in pediatric Hunter syndrome patients with cognitive impairment

Hendriksz, Christian J., Muenzer, Joseph, Vijayaraghavan, Suresh, Fan, Zheng, Santra, Saikat, Pan, Luying, Wang, Nan, Qiu, Yongchang, Barbier, Ann J.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

27

Disease course after cessation of enzyme replacement therapy (ERT) in 5 patients with type II mucopolysaccharidosis (MPS II)

Sivananthan, Siyamini, Stewart, Catherine, Finnegan, Niamh, Santra, Saikat, Vellodi, Ashok, Cleary, Maureen, Chakrapani, Anupam

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 143 KB

english, 2015

28

Long-term biomarker and cognitive follow-up of children with Hunter syndrome receiving intrathecal enzyme replacement therapy

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Santra, Saikat, Solanki, Guirish A., Pan, Luying, Wang, Nan, Mascelli, M

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 103 KB

english, 2015

29

Desensitization to galsulfase for the treatment of recurrent infusion association reactions in a child with MPS VI

Santra, Saikat, Sreekantam, Srividya, Stewart, Catherine, Gould, Rachel, Vijay, Suresh

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

30

Levomepromazine as a treatment for non-epileptic movement disorder in advanced neurodegenerative lysosomal disorders

Santra, Saikat, Simmons, Louise, Wassmer, Evangeline

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 67 KB

english, 2015

31

Very early umbilical cord blood transplantation delays but does not prevent neurodegeneration in infantile Sandhoff disease

Santra, Saikat, Vijay, Suresh, Simmons, Louise, Chakrapani, Anupam, Hendriksz, Christian J., Lawson, Sarah, Norton, Alice, Wassmer, Evangeline

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

32

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Diez-Fernandez, Carmen, Rüfenacht, Véronique, Santra, Saikat, Lund, Allan M., Santer, René, Lindner, Martin, Tangeraas, Trine, Unsinn, Caroline, de Lonlay, Pascale, Burlina, Alberto, van Karnebeek, Cl

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

33

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

Santra, Saikat, Cameron, Jessie M., Shyr, Casper, Zhang, Linhua, Drögemöller, Britt, Ross, Colin J., Wasserman, Wyeth W., Wevers, Ron A., Rodenburg, Richard J., Gupte, Girish, Preece, Mary Anne, van K

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 927 KB

english, 2016

34

Technical difficulties in the diagnosis of Krabbe leucodystrophy by enzyme analysis

Hutchin, Tim, Terry, Fionnuala, Santra, Saikat, Egerton, Christine, Church, Heather, Preece, Mary Anne

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 59 KB

english, 2016

35

Clinical features and outcomes in multiple sulfatase deficiency: A single centre experience

Sreekantam, Srividya, Simmons, Louis, Hutchins, Tim, Wassmer, Evangeline, Vijay, Suresh, Raiman, Julian, Santra, Saikat

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 69 KB

english, 2016

36

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Th

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 415 KB

english, 2015

37

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen,

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 985 KB

english, 2017

38

Rotamer-Induced Dynamic Nature of a [2]Rotaxane and Control of the Dynamics by External Stimuli

Santra, Saikat, Ghosh, Pradyut

Journal:

European Journal of Organic Chemistry

Year:

2017

Language:

english

File:

PDF, 2.32 MB

english, 2017

39

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

Vieira, Päivi, Cameron, Jessie, Rahikkala, Elisa, Keski-Filppula, Riikka, Zhang, Lin-Hua, Santra, Saikat, Matthews, Allison, Myllynen, Päivi, Nuutinen, Matti, Moilanen, Jukka S., Rodenburg, Richard J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 372 KB

english, 2017

40

A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Santra, Saikat, Solanki, Guirish A., Pan, Luying, Alexanderian, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

41

Approach to hypoglycaemia in childhood

Sreekantam, Srividya, Kershaw, Melanie, Webster, Rachel, Chakrapani, Anupam, Santra, Saikat

Journal:

Paediatrics and Child Health

Year:

2017

Language:

english

File:

PDF, 254 KB

english, 2017

42

Threading of various ‘U’ shaped bidentate axles into a heteroditopic macrocyclic wheel via NiII/ CuII templation

Ghosh, Pradyut, Nandi, Mandira, Santra, Saikat, Akhuli, Bidyut

Journal:

Dalton Transactions

Year:

2017

Language:

english

File:

PDF, 2.36 MB

english, 2017

43

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

McKiernan, Patrick, Ball, Sarah, Santra, Saikat, Foster, Katherine, Fratter, Carl, Poulton, Joanna, Craig, Kate, McFarland, Robert, Rahman, Shamima, Hargreaves, Iain, Gupte, Girish, Sharif, Khalid, Ta

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2016

Language:

english

File:

PDF, 279 KB

english, 2016

44

Syntheses of metallo-pseudorotaxanes, rotaxane and post-synthetically functionalized rotaxane: a comprehensive spectroscopic study and dynamic properties

Ghosh, Pradyut, Santra, Saikat, Bej, Somnath, Nandi, Mandira, Mondal, Partha

Journal:

Dalton Transactions

Year:

2017

Language:

english

File:

PDF, 2.65 MB

english, 2017

45

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marian

Journal:

Frontiers in Genetics

Year:

2015

Language:

english

File:

PDF, 4.36 MB

english, 2015

46

A comparison of stem cell transplant versus enzyme replacement therapy in infants with MPS II

Kearney, Shauna, Stewart, Catherine, Stewart, Alice, Raiman, Julian, Santra, Saikat

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 58 KB

english, 2018

47

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

van Ginkel, Willem G., van Reemst, Hannah E., Kienstra, Nienke S., Daly, Anne, Rodenburg, Iris L., MacDonald, Anita, Burgerhof, Johannes G.M., de Blaauw, Pim, van de Krogt, Jennifer, Santra, Saikat, H

Journal:

Year:

2019

Language:

english

File:

PDF, 1.27 MB

english, 2019

48

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

van Ginkel, Willem G., van Reemst, Hannah E., Kienstra, Nienke S., Daly, Anne, Rodenburg, Iris L., MacDonald, Anita, Burgerhof, Johannes G.M., de Blaauw, Pim, van de Krogt, Jennifer, Santra, Saikat, H

Journal:

Year:

2019

File:

PDF, 1.27 MB

2019

49

Fluorophoric [2]Rotaxanes: Post-Synthetic Functionalization, Conformational Fluxionality and Metal Ion Chelation

Ghosh, Pradyut, Santra, Saikat

Journal:

New Journal of Chemistry

Year:

2020

Language:

english

File:

PDF, 3.36 MB

english, 2020

50

Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1

Yilmaz, Ozlem, Daly, Anne, Pinto, Alex, Ashmore, Catherine, Evans, Sharon, Gupte, Girish, Santra, Saikat, Preece, Mary Anne, Mckiernan, Patrick, Kitchen, Steve, Yabanci Ayhan, Nurcan, MacDonald, Anita

Journal:

Year:

2020

File:

PDF, 384 KB

2020