scholarly journals A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA)

1996 ◽  
Vol 19 (3) ◽  
pp. 278-285 ◽  
Author(s):  
E. A. Karpova ◽  
Ya. V. Voznyi ◽  
J. L. M. Keulemans ◽  
A. T. Hoogeveen ◽  
B. Winchester ◽  
...  
Keyword(s):  
Enzyme Assay ◽  
Type A ◽  
Disease Type ◽  
Sanfilippo Disease ◽  
Mps Iiia

Sanfilippo Disease, Type A with some Features of Ceroid Lipofuscinosis

1985 ◽  
Vol 16 (02) ◽  
pp. 98-105 ◽  
Author(s):  
K. Wisniewski ◽  
R. Rudelli ◽  
M. Laure-Kamionowska ◽  
S. Sklower ◽  
G. Houck ◽  
...  
Keyword(s):  
Type A ◽  
Disease Type ◽  
Ceroid Lipofuscinosis ◽  
Sanfilippo Disease

scholarly journals A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)

1993 ◽  
Vol 16 (6) ◽  
pp. 935-941 ◽  
Author(s):  
Wang He ◽  
Ya. V. Voznyi ◽  
A. M. Boer ◽  
W. J. Kleijer ◽  
O. P. van Diggelen
Keyword(s):  
Enzyme Assay ◽  
Disease Type ◽  
Type D ◽  
Sanfilippo Disease ◽  
Mps Iiid

SANFILIPPO DISEASE, TYPE A WITH SOME FEATURES OF CEROID LIPOFUSCINOSIS

1982 ◽  
Vol 41 (3) ◽  
pp. 345 ◽  
Author(s):  
K. WISNIEWSKI ◽  
R. RUDELLI ◽  
S. SKLOWER ◽  
F. KIERAS ◽  
P. RAMOS ◽  
...  
Keyword(s):  
Type A ◽  
Disease Type ◽  
Ceroid Lipofuscinosis ◽  
Sanfilippo Disease

SCREENING FOR SANFILIPPO DISEASE TYPE A BY INFRARED SPECTROSCOPY OF HAIR

The Lancet ◽  
1985 ◽  
Vol 325 (8427) ◽  
pp. 526-527
Author(s):  
G. Lubec ◽  
A.D. Patrick ◽  
G. Nauer ◽  
Jean Mossman
Keyword(s):  
Infrared Spectroscopy ◽  
Type A ◽  
Disease Type ◽  
Sanfilippo Disease

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

1990 ◽  
Vol 187 (2) ◽  
pp. 131-139 ◽  
Author(s):  
O.P. van Diggelen ◽  
H. Zhao ◽  
W.J. Kleijer ◽  
H.C. Janse ◽  
B.J.H.M. Poorthuis ◽  
...  
Keyword(s):  
Enzyme Assay ◽  
Type A ◽  
Disease Type ◽  
Morquio Disease ◽  
Mps Iv A

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

1994 ◽  
Vol 14 (1) ◽  
pp. 17-22 ◽  
Author(s):  
Wang He ◽  
Ya. V. Voznyi ◽  
J. G. M. Huijmans ◽  
G. C. Geilen ◽  
E. A. Karpova ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Enzyme Assay ◽  
Disease Type ◽  
Type C ◽  
Sanfilippo Disease

scholarly journals Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay

1990 ◽  
Vol 10 (2) ◽  
pp. 85-91 ◽  
Author(s):  
H. Zhao ◽  
O. P. Van Diggelen ◽  
R. Thoomes ◽  
J. Huumans ◽  
E. Young ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Enzyme Assay ◽  
Type A ◽  
Disease Type ◽  
Morquio Disease

DIAGNOSIS OF CHILDREN WITH SANFILIPPO DISEASE – PSYCHOLOGICAL, SOCIAL AND MOTOR ASSESSMENT

2020 ◽  
Vol 18 (4) ◽  
pp. 525-535
Author(s):  
Paulina Anikiej-Wiczenbach ◽  
Agata Rudnik ◽  
Monika Limanówka ◽  
Jolanta Wierzba ◽  
Arkadiusz Mański
Keyword(s):  
Cognitive Impairment ◽  
Cognitive Functioning ◽  
Somatic Symptoms ◽  
Motor Dysfunction ◽  
Daily Functioning ◽  
Following Instructions ◽  
Neurological Effects ◽  
Sanfilippo Disease ◽  
Mps Iiia ◽  
Independent Person

Sanfilippo disease (mucopolysaccharidosis, MPS IIIA) is one of the types of mucopolysaccharidosis associated with extensive neurological effects and somatic symptoms. The consequences of neurodegeneration and cognitive impairment are manifested in challenges with the daily functioning of patients who experience problems with communication and following instructions. The aim of this study was to assess the cognitive functioning of three patients with MPS IIIA and to find patterns of neurodegeneration and to make their environment more friendly. Three boys (from 5.5 to 7 years) with MPS IIIA participated in the study. Each participant attended two meetings, and his functioning was assessed by three independent person (using two-way mirror). We used Bayley’s Scale III with some modifications. Interviews with parents were also included. The communication of patients was limited to some vocalizations. Patients presented instrumental use of items, but not all of them were able to repeat actions after diagnostician or presented object permanence. The results showed that the cognitive functioning of participants was significantly hindered by problems related to motor dysfunction, hyperactivity, and ataxia. The psychological data was collated with medical results. This study allows indicating new sources giving the possibility of child phenotype variability and to create specific interventions in the field of psychological therapy for patients with MPS IIIA and their families.

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