Results 101 to 110 of about 8,846 (292)

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease [PDF]

, 2010
Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown.
Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg, G Anderson, JB Bain, T Barsy de, FGJ Hayhoe, K Ikeda, BJ Maron, WJ Mitus, F Muntoni, T Okumiya, V Straub, V Straub, PS Trend, AT Ploeg van der, OP Diggelen van, DB Bassewitz von, B Winchester, LP Winkel, LP Winkel   +27 more
core   +1 more source

Glycogenosis type I

Jornal de Pediatria, 1999
OBJECTIVE: To o present up-to-date knowledge about Glycogen storage disease type I (GSD-type I) - a disease caused by the deposit of glycogen resulting from the deficiency of the enzyme glucose-6- phosphatase - and to provide the pediatricians with the necessary information for a precocious diagnosis and an adequate conduct for those cases where this ...
C V, Reis, F J, Penna, M C, Oliveira, M L, Roquete   +3 more
openaire   +2 more sources

Mauriac Syndrome in Sudanese Children: An Old Syndrome Still Existing in Resource‐Limited Countries

Pediatric Diabetes, Volume 2025, Issue 1, 2025.
Objective: Mauriac syndrome (MS) is a rare condition linked to inadequate glycemic control in type 1 diabetes mellitus (T1DM) and has also rarely been reported in patients with neonatal diabetes. MS manifests as growth failure, delayed puberty, cushingoid features, and hepatomegaly.
Mariam M. Ismail, Olivia A. Al-Hassan, Ghassan Mohamadsalih, Mohamed A. Abdullah, Ben Wheeler   +4 more
wiley   +1 more source

Pulmonary interstitial glycogenosis within a discrete pulmonary lesion mimicking congenital pulmonary airway malformation

Journal of Pediatric Surgery Case Reports, 2015
Interstitial lung diseases (ILD) are a heterogeneous group of pulmonary disorders that are relatively rare in the pediatric population. These diseases are characterized by impaired gas exchange and typically manifest with diffuse infiltrates on ...
Robert L. Ricca, Adam B. Goldin, Gail H. Deutsch, Kimberly J. Riehle   +3 more
doaj   +1 more source

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up [PDF]

, 2016
Background: Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival.
Doorn, P.A. (Pieter) van, Güngör, D. (Deniz), Kanters, T.A. (Tim), Kruijshaar, M.E. (Michelle), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), Reuser, A.J.J. (Arnold), Rizopoulos, D. (Dimitris), Wens, S.C.A. (Stephan)   +8 more
core   +1 more source

Lethal Canine Distemper Virus (Morbillivirus canis) Outbreak in Free‐Ranging Black‐Tufted Marmosets (Callithrix penicillata) in Brazil: Clinical, Pathological, Genotypical Evaluation, and Assessment of Viral Tropism

Transboundary and Emerging Diseases, Volume 2025, Issue 1, 2025.
Canine distemper virus (CDV; Morbilivirus canis) is a morbillivirus with worldwide distribution. The virus belongs to the family Paramyxoviridae, which includes highly pathogenic viruses such as measles virus (MeV) (Measles virus) and rinderpest virus (Rinderpest morbillivirus).
Bruna Hermine de Campos, Daniel Oliveira dos Santos, Janaina Ribeiro Duarte, Vinicius Henrique Barbosa Amaral, Caio de Castro Cunha Figueiredo, André Duarte Vieira, Letícia Neves Ribeiro, Lucas dos Reis Souza, Nayara Ferreira de Paula, Grazielle Cossenzo Florentino Galinari, Sara Cândida Ferreira dos Santos, Talita Emile Ribeiro Adelino, Paulo Eduardo de Souza da Silva, Natália Rocha Guimarães, Luiz Marcelo Ribeiro Tomé, Maurício Teixeira Lima, Carlyle Mendes Coelho, Herlandes Penha Tinoco, Peter MacGarr Rabinowitz, Luiz Carlos Junior Alcantara, Marta Giovanetti, Felipe Campos de Melo Iani, Erica Azevedo Costa, Ayisa Rodrigues de Oliveira, Renato Lima Santos, Marcelo Pires Nogueira de Carvalho, Gianmarco Ferrara   +26 more
wiley   +1 more source

Conduction disorders as an early marker of cardiac glycogenosis (PRKAG2 syndrome)

Рациональная фармакотерапия в кардиологии
The article presents a clinical case of familial PRKAG2-cardiomyopathy, illustrating diagnostic challenges and the importance of molecular genetic verification.
O. V. Kulikova, R. P. Myasnikov, A. V. Kiseleva, E. V. Gagarina, D. A. Nefedova, A. A. Bukaeva, A. A. Zharikova, E. A. Mershina, A. N. Meshkov, O. M. Drapkina   +9 more
doaj   +1 more source

The effect of partial portacaval transposition on the canine liver [PDF]

, 1967
The influence of nonhepatic splanchnic venous blood on dog liver morphology and biochemical content was investigated by performing partial portacaval transposition, anastomosing the supra-adrenal inferior vena cava to either the right or left branch of ...
Brown, BI, Marchioro, TL, Otte, JB, Porter, KA, Starzl, TE   +4 more
core  

Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b

BMC Gastroenterology, 2015
BackgroundInflammatory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in children. Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatosplenomegaly.
M. S. Volz, M. Nassir, C. Treese, M. von Winterfeld, U. Plöckinger, H. Epple, B. Siegmund   +6 more
semanticscholar   +1 more source

Glicogenose hereditária em bovinos Brahman no Brasil Inherited glycogenosis in Brahman cattle in Brazil

Pesquisa Veterinária Brasileira, 2005
Relata-se uma enfermidade hereditária em bovinos caracterizada por acúmulo lisossomal de glicogênio em diversos órgãos. A doença foi diagnosticada em um rebanho da raça Brahman, no município de Porto Lucena, Rio Grande do Sul, Brasil. Os animais afetados,
P Zlotowski, L Nakazato, V Dutra, S.S Barros, E.J Gimeno, M Göcks, E.M Colodel, D Driemeier   +7 more
doaj   +1 more source