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45 in total

1. FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".

Authors: B H LANDING; F N SILVERMAN; J M CRAIG; M D JACOBY; M E LAHEY; D L CHADWICK
Journal: Am J Dis Child Date: 1964-11

2. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

Authors: F Van Hoof; H G Hers
Journal: Eur J Biochem Date: 1968-12

3. Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients.

Authors: J G Leroy; A C Crocker
Journal: Am J Dis Child Date: 1966-12

4. [Metabolic encephalopathy associating mucopolysaccharidosis and sulfatidosis].

Authors: S Thieffry; G Lyon; P Maroteaux
Journal: Arch Fr Pediatr Date: 1967-04

5. Familial neurovisceral lipidosis.

Authors: C R Scott; D Lagunoff; B F Trump
Journal: J Pediatr Date: 1967-09 Impact factor: 4.406

6. Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

Authors: D M Derry; J S Fawcett; F Andermann; L S Wolfe
Journal: Neurology Date: 1968-04 Impact factor: 9.910

7. Mannosidosis: a clinical and histopathologic study.

Authors: B Kjellman; I Gamstorp; A Brun; P A Ockerman; B Palmgren
Journal: J Pediatr Date: 1969-09 Impact factor: 4.406

8. [Observation of a case of GM1 gangliosidosis].

Authors: P Hubain; E Adam; A Dewelle; G Druez; J P Farriaux; A Dupont
Journal: Helv Paediatr Acta Date: 1969-08

9. The Gm1 gangliosidosis (Landing disease).

Authors: C Hooft; L Senesael; M J Delbeke; J Kint; G Dacremont
Journal: Eur Neurol Date: 1969 Impact factor: 1.710

10. Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

Authors: M C MacBrinn; S Okada; M W Ho; C C Hu; J S O'Brien
Journal: Science Date: 1969-02-28 Impact factor: 47.728

35 in total

Review 1. Sialidosis: a review of human neuraminidase deficiency.

Authors: J A Lowden; J S O'Brien
Journal: Am J Hum Genet Date: 1979-01 Impact factor: 11.025

2. The missing link in lysosomal enzyme targeting.

Authors: W S Sly
Journal: J Clin Invest Date: 2000-03 Impact factor: 14.808

3. A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.

Authors: Sven Müller-Loennies; Giovanna Galliciotti; Katrin Kollmann; Markus Glatzel; Thomas Braulke
Journal: Am J Pathol Date: 2010-05-14 Impact factor: 4.307

The genetic mucolipidoses. Diagnosis and differential diagnosis.

1. FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".

2. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

3. Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients.

4. [Metabolic encephalopathy associating mucopolysaccharidosis and sulfatidosis].

5. Familial neurovisceral lipidosis.

6. Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

7. Mannosidosis: a clinical and histopathologic study.

8. [Observation of a case of GM1 gangliosidosis].

9. The Gm1 gangliosidosis (Landing disease).

10. Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

Review 1. Sialidosis: a review of human neuraminidase deficiency.

2. The missing link in lysosomal enzyme targeting.

3. A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.

4. I-cell disease (mucolipidosis II):a report on its pathology.

Review 5. Mucopolysaccharidoses and mucolipidoses.

6. Aspartylglucosaminuria. II. Biochemical studies on brain, liver, kidney and spleen.

7. Experimental polymer storage disease in rabbits. An approach to the histogenesis of sphingolipidoses.

8. Nephrosialidosis: ultrastructural and lectin histochemical study.

9. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

10. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.