Works matching DE "CARBOHYDRATE metabolism disorders"

Results: 217

Calcium oxalate saturation in dialysis patients with and without primary hyperoxaluria.

Published in:

Urological Research, 2006, v. 34, n. 1, p. 12, doi. 10.1007/s00240-005-0004-6

By:

Ogawa, Yoshihide;
Machida, Noriko;
Ogawa, Tomohide;
Oda, Masami;
Hokama, Sanehiro;
Chinen, Yoshiaki;
Uchida, Atsushi;
Morozumi, Makoto;
Sugaya, Kimio;
Motoyoshi, Yaeko;
Hattori, Motofumi

Publication type:

Article

Autoimmunity: Splenocytes caught moonlighting.

Published in:

Nature Reviews Immunology, 2004, v. 4, n. 1, p. 6, doi. 10.1038/nri1281

By:

Minton, Kirsty

Publication type:

Article

BULLOUS LESIONS OF THE SKIN IN DIABETES (BULLOSIS DIABETICORUM).

Published in:

British Journal of Dermatology, 1970, v. 82, n. 3, p. 216, doi. 10.1111/j.1365-2133.1970.tb12427.x

By:

Allen, Grace E.;
Hadden, David R.

Publication type:

Article

THE ACID MUCOPOLYSACCHARIDES OF MAMMALIAN SKIN.

Published in:

British Journal of Dermatology, 1969, v. 81, n. 7, p. 528, doi. 10.1111/j.1365-2133.1969.tb16028.x

By:

Mier, P. D.;
Wood, Maureen

Publication type:

Article

Familial polyglucosan body myopathy with unusual phenotype.

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 385, doi. 10.1111/nan.12171

By:

Fanin, Marina;
Nascimbeni, Anna Chiara;
Savarese, Marco;
Papa, Valentina;
Cenacchi, Giovanna;
Nigro, Vincenzo;
Angelini, Corrado

Publication type:

Article

McArdle disease and sporadic inclusion body myositis.

Published in:

2009

By:

Scarpelli, M.;
Vattemi, G.;
Filosto, M.;
Krause, S.;
Marini, M.;
Tomelleri, G.;
Tonin, P.

Publication type:

Other

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.

Published in:

Neuropathology & Applied Neurobiology, 2007, v. 33, n. 5, p. 544, doi. 10.1111/j.1365-2990.2007.00839.x

By:

Schoser, B. G. H.;
Müller-Höcker, J.;
Horvath, R.;
Gempel, K.;
Pongratz, D.;
Lochmüller, H.;
Müller-Felber, W.

Publication type:

Article

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 5, p. 661, doi. 10.1007/s00431-014-2449-5

By:

Al-Shamsi, Aisha;
Ben-Salem, Salma;
Hertecant, Jozef;
Al-Jasmi, Fatma

Publication type:

Article

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

Published in:

2008

By:

Wraith, J. Edmond;
Scarpa, Maurizio;
Beck, Michael;
Bodamer, Olaf A.;
De Meirleir, Linda;
Guffon, Nathalie;
Lund, Allan Meldgaard;
Malm, Gunilla;
Van der Ploeg, Ans T.;
Zeman, Jiri;
Meldgaard Lund, Allan

Publication type:

journal article

TTHSI Diabetes Care Pathway Guidelines.

Published in:: Caribbean Medical Journal, 2010, v. 72, n. 1, p. 22
Publication type:: Article

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 245, doi. 10.2147/TACG.S68650

By:

Vairo, Filippo;
Federhen, Andressa;
Baldo, Guilherme;
Riegel, Mariluce;
Burin, Maira;
Leistner-Segal, Sandra;
Giugliani, Roberto

Publication type:

Article

A Pathological Basis for the Cutaneous Papules of Mucopolysaccharidosis II (The Hunter Syndrome).

Published in:

Journal of Cutaneous Pathology, 1977, v. 4, n. 6, p. 318, doi. 10.1111/j.1600-0560.1977.tb00923.x

By:

Freeman, Robert G.

Publication type:

Article

Síndrome de Fanconi-Bickel: reporte de un caso.

Published in:

Boletín Médico del Hospital Infantil de México, 2009, v. 66, n. 2, p. 171

By:

Miranda-Sánchez, Sergio;
Villalpando-Carrión, Salvador;
Núñez-Barrera, Isela;
Salgado Arroyo, Betsabé;
Heller-Rouassant, Solange;
Valencia-Mayoral, Pedro

Publication type:

Article

WHAT IS THE FREQUENCY OF CARBOHYDRATE METABOLISM DISORDER IN CKD?

Published in:

Journal of Renal Care, 2012, v. 38, n. 1, p. 15, doi. 10.1111/j.1755-6686.2011.00246.x

By:

Basturk, Taner;
Unsal, Abdulkadir

Publication type:

Article

Idiopatyczna postać cukrzycy typu 1: heterogenna jednostka chorobowa czy wynik naszej niewiedzy?

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2008, v. 14, n. 1, p. 37

By:

Wegner, Olga;
Młynarski, Wojciech;
Bodalski, Jerzy

Publication type:

Article

Cardiovascular system disease in youth patients with various forms of glucose metabolism impairment - diagnosis and treatment.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2008, v. 14, n. 1, p. 31

By:

Otto-Buczkowska, Ewa;
Dworzecki, Tomasz;
Mazur-Dworzecka, Urszula

Publication type:

Article

Wpływ epizodów hipoglikemii na przewodnictwo nerwowe oraz na słuchowe i wzrokowe potencjały wywołone u dzieci z cukrzycą typu 1.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2007, v. 13, n. 1, p. 17

By:

Wysocka-Mincewicz, Marta;
Trippenbach-Dulska, Hanna;
Emeryk-Szajewska, Barbara;
Zakrzewska-Pniewska, Beata;
Kochanek, Krzysztof;
Pañkowska, Ewa

Publication type:

Article

Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.

Published in:

Acta Paediatrica, 2012, v. 101, n. 4, p. e183, doi. 10.1111/j.1651-2227.2011.02522.x

By:

Marucha, Jolanta;
Jurecka, Agnieszka;
Syczewska, Małgorzata;
Różdżyńska-Świątkowska, Agnieszka;
Tylki-Szymańska, Anna

Publication type:

Article

Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period.

Published in:

Acta Paediatrica, 2010, v. 99, n. 8, p. 1253, doi. 10.1111/j.1651-2227.2010.01800.x

By:

Malm, G.;
Månsson, J.-E.

Publication type:

Article

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence.

Published in:

Acta Paediatrica, 2008, v. 97, n. 11, p. 1577, doi. 10.1111/j.1651-2227.2008.00965.x

By:

Malm, Gunilla;
Lund, Allan M.;
Månsson, Jan-Eric;
Heiberg, Arvid

Publication type:

Article

Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT).

Published in:

Acta Paediatrica, 2008, v. 97, n. 8, p. 1108, doi. 10.1111/j.1651-2227.2008.00811.x

By:

Malm, Gunilla;
Gustafsson, Britt;
Berglund, Gunilla;
Lindström, Maria;
Naess, Karin;
Borgström, Birgit;
von Döbeln, Ulrika;
Ringdén, Olle

Publication type:

Article

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).

Published in:

2017

By:

Muenzer, Joseph;
Giugliani, Roberto;
Scarpa, Maurizio;
Tylki-Szymańska, Anna;
Jego, Virginie;
Beck, Michael

Publication type:

journal article

Advances in Type I Diabetes Associated Tolerance Mechanisms.

Published in:

Scandinavian Journal of Immunology, 2008, v. 68, n. 1, p. 1, doi. 10.1111/j.1365-3083.2008.02120.x

By:

Chentoufi, A. A.;
Binder, N. R.;
Berka, N.;
Abunadi, T.;
Polychronakos, C.

Publication type:

Article

Progress in cardiovascular biology: PPAR for the course.

Published in:

Nature Medicine, 2001, v. 7, n. 1, p. 23, doi. 10.1038/83301

By:

Lazar, Mitchell A.

Publication type:

Article

Stoffwechselkrankheiten.

Published in:

1971

By:

Dreiling, David

Publication type:

Book Review

A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 2, p. 166

By:

Şimşek, Enver;
Savaş-Erdeve, Şenay;
Sakamoto, Osamu;
Doğancı, Tümay;
Dallar, Yıldız

Publication type:

Article

Hormonal imbalance and disturbances in carbohydrate metabolism associated with chronic feeding of high sucrose low magnesium diet in weanling male wistar rats.

Published in:

Molecular & Cellular Biochemistry, 2014, v. 389, n. 1/2, p. 35, doi. 10.1007/s11010-013-1924-z

By:

Garg, Meenakshi;
Mehra, Pranav;
Bansal, Devi

Publication type:

Article

Heterogeneity of Type I diabetes: analysis of monozygotic twins in Great Britain and the United States.

Published in:

Diabetologia, 2001, v. 44, n. 3, p. 354, doi. 10.1007/s001250051626

By:

Redondo, M. J.;
Yu, L.;
Hawa, M.;
Mackenzie, T.;
Pyke, D. A.;
Eisenbarth, G. S.;
Leslie, R. D. G.

Publication type:

Article

Finally we have arrived in a new millennium.

Published in:

Diabetologia, 2001, v. 44, n. 1, p. 1, doi. 10.1007/pl00020862

By:

Waldhäusl, Werner K.

Publication type:

Article

Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue.

Published in:

Acta Neuropathologica, 2008, v. 115, n. 5, p. 547, doi. 10.1007/s00401-007-0325-3

By:

Hamano, Kimiko;
Hayashi, Masaharu;
Shioda, Kei;
Fukatsu, Ryo;
Mizutani, Shuki

Publication type:

Article

Recurrent fetal hydrops due to mucopolysaccharidoses type VII.

Published in:

2006

By:

Venkat-Raman, Narayanaswamy;
Sebire, Neil J.;
Murphy, Karl W.

Publication type:

journal article

Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21.

Published in:

Journal of Industrial Microbiology & Biotechnology, 2010, v. 37, n. 11, p. 1193, doi. 10.1007/s10295-010-0766-x

By:

Rodríguez, Alexander;
Espejo, Ángela J.;
Hernández, Alejandra;
Velásquez, Olga L.;
Lizaraso, Lina M.;
Cordoba, Henry A.;
Sánchez, Oscar F.;
Alméciga-Díaz, Carlos J.;
Barrera, Luis A.

Publication type:

Article

An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1.

Published in:

Pediatric Transplantation, 2016, v. 20, n. 4, p. 523, doi. 10.1111/petr.12705

By:

Khorsandi, Shirin Elizabeth;
Samyn, Marianne;
Hassan, Akhila;
Vilca‐Melendez, Hector;
Waller, Simon;
Shroff, Rukshana;
Koffman, Geoff;
Van't Hoff, William;
Baker, Alastair;
Dhawan, Anil;
Heaton, Nigel

Publication type:

Article

Lichen planus: investigations of carbohydrate metabolism and the HLA system.

Published in:

British Journal of Dermatology, 1975, v. 93, p. 18, doi. 10.1111/j.1365-2133.1975.tb06768.x

By:

Lowe, N. J.;
Cudworth, A. G.

Publication type:

Article

A prospective study of maternal serum C-reactive protein (CRP) concentrations and risk of gestational diabetes mellitus.

Published in:

Paediatric & Perinatal Epidemiology, 2004, v. 18, n. 5, p. 377, doi. 10.1111/j.1365-3016.2004.00578.x

By:

Qiu, Chunfang;
Sorensen, Tanya K.;
Luthy, David A.;
Williams, Michelle A.

Publication type:

Article

A prospective study of conditions associated with multiple sclerosis in a cohort of 658 consecutive outpatients attending a multiple sclerosis clinic.

Published in:

Multiple Sclerosis (13524585), 2004, v. 10, n. 5, p. 575, doi. 10.1191/1352458504ms1087oa

By:

Edwards, LJ;
Constantinescu, CS

Publication type:

Article

Factors that could explain the increasing prevalence of type 2 diabetes among adults in a Canadian province: a critical review and analysis.

Published in:

Diabetology & Metabolic Syndrome, 2016, v. 8, p. 1, doi. 10.1186/s13098-016-0186-9

By:

Thibault, Véronique;
Bélanger, Mathieu;
LeBlanc, Emilie;
Babin, Lise;
Halpine, Stuart;
Greene, Beverly;
Mancuso, Michelina

Publication type:

Article

LEADER 7: cardiovascular risk profiles of US and European participants in the LEADER diabetes trial differ.

Published in:

Diabetology & Metabolic Syndrome, 2016, v. 8, p. 1, doi. 10.1186/s13098-016-0153-5

By:

Rutten, Guy E. H. M.;
Tack, Cees J.;
Pieber, Thomas R.;
Comlekci, Abdurrahman;
Dynnes Ørsted, David;
Baeres, Florian M. M.;
Marso, Steven P.;
Buse, John B.

Publication type:

Article

Association of inflammatory markers and poor outcome in diabetic patients presenting with ST segment elevation myocardial infarction.

Published in:

Journal of Inflammation Research, 2015, v. 8, p. 107, doi. 10.2147/JIR.S76304

By:

Belenkova, Yulia;
Karetnikova, Viktoria;
Diachenko, Aleksey;
Gruzdeva, Olga;
Blagoveshchenskaya, Olga;
Molodtsova, Tatiana;
Uchasova, Evgenya;
Barbarash, Olga

Publication type:

Article

Carbohydrate Metabolism and Its Disorders (Book).

Published in:

1969

By:

Arey, Ronald A.

Publication type:

Book Review

Long-Chain Acylcarnitines Regulate the hERG Channel.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041686

By:

Ferro, Fabio;
Ouillé, Aude;
Tran, Truong-An;
Fontanaud, Pierre;
Bois, Patrick;
Babuty, Dominique;
Labarthe, François;
Le Guennec, Jean-Yves

Publication type:

Article

Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035787

By:

Wilkinson, Fiona L.;
Holley, Rebecca J.;
Langford-Smith, Kia J.;
Badrinath, Soumya;
Liao, Aiyin;
Langford-Smith, Alex;
Cooper, Jonathan D.;
Jones, Simon A.;
Wraith, J. Ed;
Wynn, Rob F.;
Merry, Catherine L. R.;
Bigger, Brian W.

Publication type:

Article

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C.

Published in:

PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007434

By:

Feldhammer, Matthew;
Durand, Stéphanie;
Pshezhetsky, Alexey V.

Publication type:

Article

Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2007, v. 21, n. 8, p. 1082, doi. 10.1111/j.1468-3083.2007.02203.x

By:

Ochiai, T.;
Suzuki, Y.;
Kato, T.;
Shichino, H.;
Chin, M.;
Mugishima, H.;
Orii, T.

Publication type:

Article

Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum.

Published in:

Journal of Neuroscience, 2004, v. 24, n. 45, p. 10229, doi. 10.1523/JNEUROSCI.3558-04.2004

By:

Cressant, Arnaud;
Desmaris, Nathalie;
Verot, Lucie;
Bréjot, Thomas;
Froissart, Roseline;
Vanier, Marie-T.;
Maire, Irène;
Heard, Jean Michel

Publication type:

Article

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.

Published in:

2016

By:

Campistol, Jaume;
Díez‐Juan, María;
Callejón, Laura;
Fernandez‐De Miguel, Aroa;
Casado, Mercedes;
Garcia Cazorla, Angels;
Lozano, Reymundo;
Artuch, Rafael

Publication type:

journal article

Prospective isolation of multipotent pancreatic progenitors using flow-cytometric cell sorting.

Published in:

2004

By:

Suzuki, Atsushi;
Nakauchi, Hiromitsu;
Taniguchi, Hideki

Publication type:

journal article

ANÁLISIS DE RESISTENCIA INSULÍNICA, TOLERANCIA A LA GLUCOSA. Y TESTOSTERONA EN MUJERES JÓVE NES CON SÍNDROME DE OVARIO POLIQUÍSTICO AGRUPADAS POR ÍNDICE DE MASA CORPORAL.

Published in:

Revista Chilena de Obstetricia y Ginecología, 2006, v. 71, n. 5, p. 299

By:

José del Río, V. Maria;
Ramírez, M. Juan Pablo;
Cortés, C. Manuel E.;
Martí, O. Gerardo;
Godoy, R. Ana;
Vigil, P. Pilar

Publication type:

Article

Inhibitory Effects of Pasuchaca (Geranium dielsiaum) Extract on α-Glucosidase in Mouse.

Published in:

Bioscience, Biotechnology & Biochemistry, 2006, v. 70, n. 6, p. 1482, doi. 10.1271/bbb.50420

By:

Karato, Mariko;
Yamaguchi, Kohji;
Takei, Shin;
Kino, Takao;
Yazawa, Kazunaga

Publication type:

Article

CITATIONS AND CLINICIANS' NOTES: COMPLICATIONS OF DIABETES -- MISCELLANEOUS.

Published in:: Current Medical Literature: Diabetes, 2004, v. 21, n. 3, p. 88
Publication type:: Article