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Mucolipidosis IV.
Goutières F, Arsenio-Nunes ML, Aicardi J. Goutières F, et al. Neuropadiatrie. 1979 Nov;10(4):321-31. doi: 10.1055/s-0028-1085335. Neuropadiatrie. 1979. PMID: 231746
The disease does not affect exclusively Jewish people. In two cases absence of oligosacchariduria was demonstrated....
The disease does not affect exclusively Jewish people. In two cases absence of oligosacchariduria was demonstrated....
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R. Casado M, et al. Anal Bioanal Chem. 2014 Jul;406(18):4337-43. doi: 10.1007/s00216-014-7832-6. Epub 2014 May 2. Anal Bioanal Chem. 2014. PMID: 24788891
In conclusion, the first CE-LIF method to screen for oligosaccharidoses and related diseases, which also present oligosacchariduria, has been standardized. In all of the cases, the urine oligosaccharide analysis was strongly informative and showed abnormal patterns that we …
In conclusion, the first CE-LIF method to screen for oligosaccharidoses and related diseases, which also present oligosacchariduria, …
Salla disease in one non-Finnish patient.
Echenne B, Vidal M, Maire I, Michalski JC, Baldet P, Astruc J. Echenne B, et al. Eur J Pediatr. 1986 Sep;145(4):320-2. doi: 10.1007/BF00439413. Eur J Pediatr. 1986. PMID: 3770005
This was supported by a tenfold excretion of urinary free sialic acid, without abnormal oligosacchariduria or anomaly in lysosomal enzymes. This boy is a native of Southern France. ...
This was supported by a tenfold excretion of urinary free sialic acid, without abnormal oligosacchariduria or anomaly in lysosomal en …
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R. de Jong J, et al. J Pediatr. 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. J Pediatr. 1994. PMID: 8071745
An 11-month-old girl with nonconsanguineous parents had generalized seizures and no angiokeratoma. Biochemical investigation showed persistent slight oligosacchariduria; enzymatic analysis of plasma, leukocytes, and fibroblasts revealed profound alpha-NAGA deficiency. ...
An 11-month-old girl with nonconsanguineous parents had generalized seizures and no angiokeratoma. Biochemical investigation showed persiste …
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria.
Darin N, Kyllerman M, Hård AL, Nordborg C, Månsson JE. Darin N, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):553-5. doi: 10.1016/j.ejpn.2008.11.003. Epub 2008 Dec 18. Eur J Paediatr Neurol. 2009. PMID: 19097920
In conclusion, the clinical and laboratory features of this patient show that galactosialidosis may be considered in patients even in the absence of oligosacchariduria and that galactosialidosis should be regarded as a differential diagnosis in patients with neuropathic pa …
In conclusion, the clinical and laboratory features of this patient show that galactosialidosis may be considered in patients even in the ab …
Urinary screening for disorders of heteroglycan metabolism. Results of 10 years experience with a comprehensive system.
Sewell AC. Sewell AC. Klin Wochenschr. 1988 Jan 15;66(2):48-53. doi: 10.1007/BF01713010. Klin Wochenschr. 1988. PMID: 2964538
The enzymatic diagnosis was achieved in 159 mucopolysaccharidoses of which Type III Sanfilippo was the commonest (86 cases), followed by Type II Hunter (31 cases) and Type I Hurler (21 cases). A total of 27 urines were positive for excess oligosacchariduria, the enzymatic …
The enzymatic diagnosis was achieved in 159 mucopolysaccharidoses of which Type III Sanfilippo was the commonest (86 cases), followed by Typ …
Identification of urinary oligosaccharides by matrix-assisted laser desorption ionization time-of-flight mass spectrometry.
Klein A, Lebreton A, Lemoine J, Périni JM, Roussel P, Michalski JC. Klein A, et al. Clin Chem. 1998 Dec;44(12):2422-8. Clin Chem. 1998. PMID: 9836707
The protocols described here allowed facile and sensitive identification of the pathognomonic oligosacchariduria present in lysosomal diseases and can be extended to any pathological oligosacchariduria....
The protocols described here allowed facile and sensitive identification of the pathognomonic oligosacchariduria present in lysosomal …
Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis.
Sewell AC. Sewell AC. Eur J Pediatr. 1980 Sep;134(3):183-94. doi: 10.1007/BF00441471. Eur J Pediatr. 1980. PMID: 6775948
In recent years great interest has centered around metabolic disorders in which excessive oligosacchariduria is a prominent feature. This review describes the methods of both structural and diagnostic investigations of oligosaccharides in a number of these diseases. ...
In recent years great interest has centered around metabolic disorders in which excessive oligosacchariduria is a prominent feature. …