[PDF] Top 20 Topomineralogía del partido judicial de Reinosa
Has 6751 "Topomineralogía del partido judicial de Reinosa" found on our website. Below are the top 20 most common "Topomineralogía del partido judicial de Reinosa".
Surgical Therapy of Glycogen Storage Disease
... Subjects: The study group included 150 high risk infants born at the University of Missouri. Medical Center[r] ... See full document
108
Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report
... There are few case reports in the literature of patients with different subtypes of GSD who later developed DM. Most of these reports describe patients who develop DM in the setting of pancreatic insufficiency and ... See full document
22
Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease
... of glycogen from the skeletal muscle of Pompe patients has been shown to be more difficult than substrate elimination in other lysosomal storage disorders, and several factors contribute to the limited ... See full document
14
Liver transplantation in glycogen storage disease type I
... In GSDIb patients, persistent neutropenia was the most important complication (7/22 (32%) of patients). Neutro- penia in GSDIb has recently been attributed to a second G6P hydrolase, called G6Pase-β [42]. The ... See full document
5
Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia
... To prevent inflammatory responses and other immune reactions associated with Ad and AAV vectors, the use of an HDAd vector, devoid of viral particles, had been instituted. Treatment of G6Pase -/- mice with an HDAd vector ... See full document
15
DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE I BY SERUM IMMUNODIFFUSION
... immunoelectrophoresis this antiserum was found to react with an antigen in normal human serum, and also with serum from a child with glycogen storage disease, type III, i.e., debranching[r] ... See full document
13
McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case
... McArdle’s disease or Glycogen Storage Disease Type V (GSDV) is caused by a de iciency in one of the enzymes responsible for the metabolism of glycogen in the ...this disease, ... See full document
8
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0
... whereas glycogen phosphorylase is unaltered, resulting in extensive gly- cogen cycling ...the glycogen stores are most likely depleted dur- ing normoglycemic ...liver glycogen synthesis without a ... See full document
8
THE EFFECTS OF GLUCAGON IN THREE FORMS OF GLYCOGEN STORAGE DISEASE
... The subjects with proven or Pase deficiency, the hypoglycemia was definite but presumed amylo-1: 6 glucosidase deficiency, either modest average blood glucose levels, 47 and 45 as the ma[r] ... See full document
93
Sweat Electrolytes in Glycogen Storage Disease, Type I
... DATA FROM SWEAT TESTS ON CHILDREN WITH GLYCOGEN STORAGE DISEASE*. Sex 1045 Date Age (yr) Time (nun) Sweat (ml) Patient I ).(‘,. Simultaneous determinations of serum sodium and chloride a[r] ... See full document
6
GLUCOSE-6-PHOSPHATASE DEFICIENCY GLYCOGEN STORAGE DISEASE
... Blood lac tate was determined by the Mitchell and Cournand@ modification of the Barker and Summerson method.° Blood pyruvate was measured spectrophotometrically with lac tic dehydrogena[r] ... See full document
162
STUDIES IN DISORDERS OF MUSCLE
... dence has been presented that phosphorylase may be deficient in the hepatomegalic form of glycogen storage disease.13 The present studies of the glycogen from a patient with the muscle t[r] ... See full document
12
A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase
... The inherited skeletal muscle disorder known as PSSM1, caused by a missense mutation in the equine GYS1 gene [8] is histopathologically characterised by increased amylopectate and glycogen in skeletal muscle ... See full document
23
Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects
... Active glycogen metabolism has been demonstrated in both normal and glycogen-rich erythrocytes taken from patients with type III glycogen storage ...of glycogen have been demonstrated ... See full document
124
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study
... Collecting sufficient data to demonstrate treatment ef- ficacy is a challenge in rare diseases. Demonstrating improved survival is particularly difficult in a slowly pro- gressive disease such as adult Pompe ... See full document
56
ENZYME INDUCTION IN A CASE OF GLYCOGEN STORAGE DISEASE
... phosphatase in cases of amylo-1, 6-glucosi- dase deficiency could be the result of a double enzyme deficiency due to two structural gene defects, or secondary to a. regulatory gene disor[r] ... See full document
5
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
... Each of the three GSD-IIIb patients studied in detail was a compound heterozygote for two different mutations. The two mutations located on separate chromosomes in each patient were demonstrated by the family studies. ... See full document
133
GLYCOGEN STORAGE DISEASE OF THE LIVER
... Gierke livers based on weight or cell. content was found to be at least as high as[r] ... See full document
9
GLYCOGEN STORAGE DISEASE OF THE LIVER
... of extreme hypoglycemia and under cir- cumstances where the blood sugar was ele- vated to normal or high values suggests that, at least with respect to electrical ac- tivity, patients wi[r] ... See full document
8
GLYCOGEN STORAGE DISEASE OF THE HEART
... The normal increase in blood lactate after injection of epinephrine in the present. patient was evidence that muscle glycogen could be broken down at least to the pyruvic[r] ... See full document
114
Related subjects