Las Glucogenosis en España: Situación Actual y Guías Informativas



Yüklə 1,33 Mb.
səhifə88/98
tarix05.01.2022
ölçüsü1,33 Mb.
#67354
1   ...   84   85   86   87   88   89   90   91   ...   98
Human Genetics; 104 ( 1 ): 111-112.

[13] Illingworth B et al ( 1956) "Amylo-1,6-glucosidase in muscle tissue in generalized


glycogen storage disease", Journal of Biological Chemistry; 218: 123-130.

[14] Shaiu WL et al (2000) "Genotype-phenotype correlation in two frequent mu-


tations and mutation update in type III glycogen storage disease", Molecular Ge-
netics and Metabolism;
69 ( 1 ): 16-23.

[15]Cheng A et al. (2007) "A role for AGL ubiquitination in the glycogen storage


disorders of Lafora and Cori's disease", Genes Dev; 21(19):2399-409.

[ 16| Sugie H et al (2001) "Novel exon II skipping mutation in a patient with


glycogen storage disease type Hid", Journal of Inherited Metabolic Disorders; 24

(5): 535-545.

[17] Howell RR y JC Williams (1983) "The glycogen storage diseases", en Stan-
bury WJ et al eds. The Metabolic Basis of Inherited Disease. 5Ih ed. New York.
McGraw-Hill; pp. 141-166.

[18] Snappes I y S Van Creveld (1928) "Un cas d'hypoglycémie avec acetonemie


chez un enfant". Bulletins et Mémoires de la Société Médicale des Hôpitaux de
Paris;
52: 1315-1317.

[19| Brown B (1985) "Diagnosis of glycogen storage disease", en RaWed. Con-


genital Metabolic Disease, Diagnosis and Treatment.
Basel. Dekker; p. 227.

[20] Van Creveld S y F Huijing (1964) "Differential diagnosis of the type of glyco-


gen disease in two adult patients with long history of glycogenosis", Metabolism;
13: 191-198.

[21] Demo E et al. (2007) "Glycogen storage disease type III-hepatocellular car-


cinoma a long-term complication?" J Hepatol; 46(3):492-8.

[22] Mundy HR et al. (2008) "Reduction in bone mineral density in glycogenosis


type III may be due to a mixed muscle and bone deficit", J Inherit Metab Dis;
31(3):418-23.

[23] DiMauro S et al (1979) "Debrancher deficiency: neuromuscular disorder in


5 adults". Annals of Neurology; 5 (5): 422-436.

184


Las Glucogenosis en España

[24] Lee PJ et al (1997) "Comparison of the functional significance of left ven-


tricular hypertrophy in hypertrophie cardiomyopathy and glycogenosis type III",
American Journal of Cardiology, 79 (6): 834-838.

[25] Cleary MA et al (2002) "Facial appearance in glycogen storage disease type



Yüklə 1,33 Mb.

Dostları ilə paylaş:
1   ...   84   85   86   87   88   89   90   91   ...   98




Verilənlər bazası müəlliflik hüququ ilə müdafiə olunur ©muhaz.org 2024
rəhbərliyinə müraciət

gir | qeydiyyatdan keç
    Ana səhifə


yükləyin