Fernando Scaglia: search on Z-Library

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1

Arginine and Citrulline for the Treatment of MELAS Syndrome

El-Hattab, Ayman W., Almannai, Mohammed, Scaglia, Fernando

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2017

Language:

english

File:

PDF, 159 KB

english, 2017

2

28. Neurological phenotype is the key predictor of long-term outcome in mitochondrial DNA depletion resulting from deoxyguanosine kinase deficiency

David P. Dimmock, J. Kay Dunn, Annette Feigenbaum, Tony Rupar, Rita Horvath, Peter Freisinger, Bénédicte Mousson de Camaret, Lee-Jun Wong, Fernando Scaglia

Journal:

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

3

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando

Journal:

Year:

2013

Language:

english

File:

PDF, 123 KB

english, 2013

4

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell

Journal:

Year:

2014

Language:

english

File:

PDF, 698 KB

english, 2014

5

Therapies for mitochondrial diseases and current clinical trials

El-Hattab, Ayman W., Zarante, Ana Maria, Almannai, Mohammed, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 276 KB

english, 2017

6

Safety and efficacy of intracoronary sodium nitroprusside for the assessment of coronary fractional flow reserve

Pedroni, Pablo, Sarmiento, Ricardo Aquiles, Solernó, Raúl, Hauqui, Agustín, Oscos, Martín, Alvarez, Fernando, Lynch, Angeles Videla, Giachello, Federico, Scaglia, Juan, Grinfeld, Diego

Journal:

Indian Heart Journal

Year:

2018

Language:

english

File:

PDF, 668 KB

english, 2018

7

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten,

Journal:

Annals of Clinical and Translational Neurology

Year:

2018

Language:

english

File:

PDF, 516 KB

english, 2018

8

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study

Goin-Kochel, Robin P., Scaglia, Fernando, Schaaf, Christian P., Berry, Leandra N., Dang, Dianne, Nowel, Kerri P., Laakman, Anna L., Dowell, Lauren R., Minard, Charles G., Loh, Alvin, Beaudet, Arthur L

Journal:

Global Pediatric Health

Year:

2019

Language:

english

File:

PDF, 132 KB

english, 2019

9

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil Hanchard, Oleg A. Shchelochkov, Ellen Brundage, Eric Schmitt, Fangyuan Li, Lee-Jun Wong, Fernando Scaglia⁎

Journal:

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

10

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

El-Hattab, Ayman W., Adesina, Adekunle M., Jones, Jeremy, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

11

The role of mitochondrial dysfunction in psychiatric disease

Fernando Scaglia

Journal:

Development Diabilities Research Reviews

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

12

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease

Fernando Scaglia, Lee-Jun C. Wong

Journal:

Year:

2008

Language:

english

File:

PDF, 196 KB

english, 2008

13

116 Bipolar disorder as the presenting clinical feature of the 3243A>G mutation in the mitochondrial tRNALeu(UUR) gene

Fernando Scaglia, Ricardo Diaz Millan, Chester W. Brown, Lee-Jun C. Wong

Journal:

Year:

2010

Language:

english

File:

PDF, 62 KB

english, 2010

14

Nitric oxide production in subjects with MELAS syndrome and the effect of arginine and citrulline supplementation: Interim results

Ayman El-Hattab⁎, William Craigen, Lee-Jun Wong, Farook Jahoor, Fernando Scaglia

Journal:

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

15

Numerical methods based controller design for mobile robots

Scaglia, Gustavo, Montoya, Lucía Quintero, Mut, Vicente, di Sciascio, Fernando

Journal:

Year:

2009

Language:

english

File:

PDF, 379 KB

english, 2009

16

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients

Fernando Scaglia, Susan Carter, William E O’Brien, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 179 KB

english, 2004

17

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

Y. Jane Tavyev Asher, Fernando Scaglia

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 187 KB

english, 2012

18

Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene

Harting, Mandy, Brunetti-Pierri, Nicola, Chan, C. Stanley, Kirby, Joslyn, Dishop, Megan K., Richard, Gabriele, Scaglia, Fernando, Yan, Albert C., Levy, Moise L.

Journal:

Archives of Dermatology

Year:

2008

Language:

english

File:

PDF, 303 KB

english, 2008

19

Exome sequencing and functional biology reveal novel mitochondrial disease genes

Penelope E. Bonnen, Arnaud Besse, Tarak Donti, Adithya Raghavan, Seema Lalani, Fernando Scaglia, William J. Craigen, Brett H. Graham

Journal:

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

20

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency

Shayota, Brian J., Soler-Alfonso, Claudia, Bekheirnia, Mir Reza, Mizerik, Elizabeth, Boyer, Suzy W., Xiao, Rui, Yang, Yaping, Elsea, Sarah H., Scaglia, Fernando

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 761 KB

english, 2019

21

Creatine metabolism in combined methylmalonic aciduria and homocystinuria

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

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

22

Navegación de Robots Móviles en Entornos no Estructurados utilizando Álgebra Lineal

Rosales, Andrés, Scaglia, Gustavo, Mut, Vicente, di Sciascio, Fernando

Journal:

Revista Iberoamericana de Automática e Informática Industrial RIAI

Year:

2009

File:

PDF, 726 KB

2009

23

Trajectory tracking of mobile robots in dynamic environments—a linear algebra approach

Rosales, Andrés, Scaglia, Gustavo, Mut, Vicente, di Sciascio, Fernando

Journal:

Year:

2009

Language:

english

File:

PDF, 1.24 MB

english, 2009

24

19. Aortic root dilatation: a previously unrecognized clinical feature of mitochondrial cytopathies

N. Brunetti-Pierri, N. Fouladi, J. Towbin, J.L. Jefferies, V.R. Sutton, J. Belmont, W. Craigen, L.-J. Wong, F. Scaglia, Fernando Scaglia

Journal:

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

25

3-Methylglutaconic aciduria type IV due to novel mutation in TMEM70

Oleg A. Shchelochkov⁎, Fangyuan Li, Jing Wang, Jeffrey A. Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia

Journal:

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

26

131 Prevalence of autistic features in patients with definite diagnosis of mitochondrial disorder

Fernando Scaglia, Shulin Zheng, Zheng Tan, Negin Fouladi, Eric Schmitt, Lee-Jun C. Wong

Journal:

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

27

Disorders of carnitine biosynthesis and transport

El-Hattab, Ayman W., Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 739 KB

english, 2015

28

Molecular confirmation of VLCAD deficiencies in newborns

Megan Landsverk⁎, Fernando Scaglia, Lee-Jun Wong

Journal:

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

29

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Jahoor, Farook, Scaglia, Fernando, Craigen, William J.

Journal:

Year:

2014

Language:

english

File:

PDF, 684 KB

english, 2014

30

Genetic and Immunologic Characterization of Seven Encephalitozoon hellem Human Strains

CARMEN DEL AGUILA, CRISTINA RUEDA, MARIA HARO, MASSIMO SCAGLIA, SIMONNA GATTI, FERNANDO J. BORNAY-LLINARES, SOLEDAD FENOV, NUNO HENRIQUES-GIL

Journal:

Journal of Eukaryotic Microbiology

Year:

2001

Language:

english

File:

PDF, 696 KB

english, 2001

31

[IEEE 2008 IEEE International Conference on Industrial Technology - (ICIT) - Chengdu, China (2008.04.21-2008.04.24)] 2008 IEEE International Conference on Industrial Technology - Numerical methods based strategy and particle filter state estimation for bio process control

Montoya, Olga Lucia Quintero, Scaglia, Gustavo, di Sciascio, Fernando, Mut, Vicente

Year:

2008

Language:

english

File:

PDF, 217 KB

english, 2008

32

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 656 KB

english, 2016

33

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation

Ziats, Mark N., Comeaux, Mathew S., Yang, Yaping, Scaglia, Fernando, Elsea, Sarah H., Sun, Qin, Beaudet, Arthur L., Schaaf, Christian P.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 488 KB

english, 2015

34

Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation”

Ziats, Mark N., Comeaux, Matthew S., Yang, Yaping, Scaglia, Fernando, Elsea, Sarah H., Sun, Qin, Beaudet, Arthur L., Schaaf, Christian P.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 94 KB

english, 2015

35

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

Nicola Brunetti-Pierri, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1001 KB

english, 2008

36

Sublingual therapy for cobalamin deficiency

Olaf AF Bodamer, Fernando Scaglia

Journal:

Year:

1999

Language:

english

File:

PDF, 26 KB

english, 1999

37

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard, Bonnen, Penelope E

Journal:

BMC Medical Genetics

Year:

2013

Language:

english

File:

PDF, 247 KB

english, 2013

38

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

El-Hattab, Ayman W, Zhang, Feng, Maxim, Rolanda, Christensen, Katherine M, Ward, Jewell C, Hines-Dowell, Stacy, Scaglia, Fernando, Lupski, James R, Cheung, Sau Wai

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.51 MB

english, 2010

39

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

Scaglia, Fernando, Wang, Yuhuan, Singh, Rani H, Dembure, Philip P, Pasquali, Marzia, Fernhoff, Paul M, Longo, Nicola

Journal:

Genetics in Medicine

Year:

1998

Language:

english

File:

PDF, 492 KB

english, 1998

40

Molybdenum cofactor deficiency

Atwal, Paldeep S., Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 414 KB

english, 2015

41

The Xp contiguous deletion syndrome and autism

Marwan Shinawi, Ankita Patel, Prisana Panichkul, Roxanne Zascavage, Sarika U. Peters, Fernando Scaglia

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 269 KB

english, 2009

42

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Erik A. Eklund, Liangwu Sun, Vibeke Westphal, Jennifer L. Northrop, Hudson H. Freeze, Fernando Scaglia

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 116 KB

english, 2005

43

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguye

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.84 MB

english, 2017

44

Lithologies, structure and basement-cover relationships in the schist belt of the Dom Feliciano Belt in Uruguay

Masquelin, Henri, Lara, Hernán Silva, Bettucci, Leda Sánchez, Demarco, Pablo Núñez, Pascual, Sofía, Muzio, Rossana, Peel, Elena, Scaglia, Fernando

Journal:

Brazilian Journal of Geology

Year:

2017

File:

PDF, 16.46 MB

2017

45

Analysis of fragment size distribution of cell-free DNA: A potential noninvasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism

Ng, Hoi Ioi, Zhu, Xiaofan, Xuan, Liming, Long, Yan, Mao, Yan, Shi, Yu, Sun, Liying, Liang, Bo, Minard, Charles, Scaglia, Fernando, Choy, Kwong Wai, Zhu, Zhijun

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 2.71 MB

english, 2019

46

New insights in nutritional management and amino acid supplementation in urea cycle disorders

Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 156 KB

english, 2010

47

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil A. Hanchard, Oleg A. Shchelochkov, Angshumoy Roy, Joanna Wiszniewska, Jing Wang, Edwina J. Popek, Saul Karpen, Lee-Jun C. Wong, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.21 MB

english, 2011

48

Formation control and trajectory tracking of mobile robotic systems – a Linear Algebra approach

Rosales, Andrés, Scaglia, Gustavo, Mut, Vicente, di Sciascio, Fernando

Journal:

Year:

2011

Language:

english

File:

PDF, 1.37 MB

english, 2011

49

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy

Scaglia, Fernando, Hsu, Chang-Hung, Kwon, Haeyoung, Bai, Ren-Kui, Perng, Cherng-Lih, Chang, Hua-Mei, Dai, Pu, Smith, E O'brian, Whiteman, David A H, Feigenbaum, Annette, Gropman, Andrea, Wong, Lee-Jun

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 348 KB

english, 2006

50

Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty

Shweta U. Dhar, Patricia Robbins-Furman, Moise L. Levy, Ankita Patel, Fernando Scaglia

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

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