Results 271 to 280 of about 65,519 (325)

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia. [PDF]

NPJ Genom Med
Koch RL, Fares AH, Cocanougher BT, Lim J, Haijer-Schreuder AB, Derks TGJ, Grünert SC, Sharma R, Jones KA, Kishnani PS.   +9 more
europepmc   +1 more source

Case Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd. [PDF]

Surg Case Rep
Kawata K, Otsu H, Hu Q, Tsuda Y, Nagao Y, Yonemura Y, Masuda T, Yoshizumi T, Mimori K.   +8 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

GLYCOGEN STORAGE DISEASE: TYPE I

Archives of Pediatrics & Adolescent Medicine, 1969
To the Editor .—I read with interest Dr. Richard Fine's article inThe Journal(Amer J Dis Child115:238-331 [March] 1968). I would like to make some comments with regard to the author's statement: "Retinal changes have not been previously described in patients with GSD Type I." Newer mentioned Von Gierke's disease among conditions in which lipemia ...
R N, Fine, W A, Wilson, G N, Donnell
openaire   +4 more sources

Renal Disease in Type I Glycogen Storage Disease

New England Journal of Medicine, 1988
Although kidney enlargement occurs in Type I glycogen storage disease, renal disease has not been considered a major problem. Death from renal failure in three patients known to us prompted a study of renal function in this disorder. Of the 38 patients with Type I glycogen storage disease under our care, the 18 children under 10 years old had normal ...
Y T, Chen, R A, Coleman, J I, Scheinman, P C, Kolbeck, J B, Sidbury   +4 more
openaire   +3 more sources

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

European Journal of Pediatrics, 2002
Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment.
Jan Peter Rake Æ Gepke Visser Æ Philippe Labrune James V. Leonard Æ Kurt Ullrich Æ G. Peter A. Smit, ESGSD I. Members ofthe ESGSD I are: Austria (W Endres, D Skladal, Innsbruck), Belgium (E Sokal, Brussels), Czech Republic (J Zeman, Prague), France (P Labrune, Clamart), Germany (P Bu ̈ hrdel, Leipzig, K Ullrich, Hamburg, G Da ̈ ublin, U Wendel, Du ̈ sseldorf), Great Britain (P Lee, JV Leonard, G Mieli-Vergani, London), Hungary (L Szo ̈ nyi, Budapest), Italy (P Gandullia, R Gatti, M di Rocco, Genoa, Melis D, G Andria, Naples), Israel (S Moses, Beersheva), Poland (J Taybert, E Pronicka, Warsaw), The Netherlands (JP Rake, GPA Smit, G Visser, Groningen), Turkey (H O ̈ zen, N Kocak, Ankara)   +41 more
openaire   +4 more sources

Intestinal function in glycogen storage disease type I

Journal of Inherited Metabolic Disease, 2002
AbstractGlycogen storage disease type I (GSD I) (McKusick 232200) is caused by inherited defects of the glucose‐6‐phosphatase complex. Patients with GSD Ia as well as patients with GSD Ib may suffer from intermittent diarrhoea, which seems to worsen with age. The cause of this diarrhoea is unknown.
Visser, G, Rake, JP, Kokke, FTM, Nikkels, PGJ, Sauer, PJJ, Smit, GPA   +5 more
openaire   +3 more sources

Hepatocellular carcinoma in type I glycogen storage disease

Hepatology, 1988
Patients suffering from Type I glycogen storage disease frequently develop hepatic tumors. Some of these were classified as carcinoma, with the majority of tumors representing benign adenomata. However, no evidence exists of malignant transformation of adenomata in these patients.
J, Limmer, W E, Fleig, D, Leupold, R, Bittner, H, Ditschuneit, H G, Beger   +5 more
openaire   +2 more sources

Sonographic findings in type I glycogen storage disease

Journal of Clinical Ultrasound, 2001
AbstractPurposeThe aim of this study was to document the sonographic appearance and dimensions of the liver and spleen in patients affected by type I glycogen storage disease and to correlate those findings with laboratory data to evaluate the potential role of sonography in diagnosing that disease.MethodsFourteen patients (age range, 3–26 years; 10 ...
C. Pozzato, A. Botta, C. Melgara, L. Fiori, M.L. Giannì, E. Riva   +5 more
openaire   +3 more sources