SCOPUS 정보 검색 플랫폼

Volumn 148, Issue 2, 1988, Pages 126-131

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

(11) Jaeken, J a Wadman, S K b Duran, M b van Sprang, F J b Beemer, F A b Holl, R A c Theunissen, P M d de Cock, P a van den Bergh, F e Vincent, M F e van den Berghe, G a,e

a UNIVERSITY HOSPITALS LEUVEN (Belgium)

b UNIVERSITY MEDICAL CENTER UTRECHT (Netherlands)

c ST ELISABETH HOSPITAL (Netherlands)

d ATRIUM MEDICAL CENTER (Netherlands)

e International Institute of Cellular and Molecular Pathology (Belgium)

Author keywords

Adenylosuccinase deficiency; Autism; Mental retardation; Purine metabolism; Succinylpurines

Indexed keywords

ENZYME; PURINE;

ADENYLOSUCCINATE LYASE DEFICIENCY; AUTISM; CLINICAL ARTICLE; EPILEPSY; FEMALE; GROWTH DISORDER; HUMAN; INBORN ERROR OF METABOLISM; MALE; MENTAL DEFICIENCY; MUSCLE ATROPHY; NEWBORN; PRIORITY JOURNAL; SYMPTOMATOLOGY;

ADENYLOSUCCINATE LYASE; ADOLESCENT; CASE REPORT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMAN; INFANT; INFANT, NEWBORN; LYASES; MALE; METABOLISM, INBORN ERRORS; PSYCHOMOTOR DISORDERS; PURINE NUCLEOTIDES; SUPPORT, NON-U.S. GOV'T;

EID: 0023816215 PISSN: 03406199 EISSN: 14321076 Source Type: Journal
DOI: 10.1007/BF00445919 Document Type: Article

Times cited : (110)

References (20)

1
- 84933811627
- McGraw-Hill, New York
- (1982) Neurology of hereditary metabolic diseases of children
- Ada, R.D.¹ Lyon, G.²

2
- 0003763435
- American Psychiatric Association, 3rd edn., A.P.A., Washington, DC
- (1980) DSM-III: diagnostic and statistical manual of mental disorders

3
- 0018118414
- Effect of diet on adenylosuccinase activity in various organs of rat and chicken
- (1978) J Biol Chem , vol.253 , pp. 6872-6878
- Brand, L.M.¹ Lowenstein, J.M.²

4
- 0000139091
- A new coupling component for sulfanilamide determination
- (1939) J Biol Chem , vol.128 , pp. 537-550
- Bratton, A.C.¹ Marshall, E.K.²

5
- 0022532420
- Diagnosis of inherited adenylosuccinase deficiciency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines
- (1986) Clin Chim Acta , vol.156 , pp. 279-288
- de Bree, P.K.¹ Wadman, S.K.² Duran, M.³ Fabery de Jonge, H.⁴

6
- 0021379485
- Infantile autism
- (1984) Neurol Clin , vol.2 , pp. 139-152
- De Myer, W.¹ De Myer, M.²

7
- 84935837759
- Dorland L, Sprang FJ van, Echteld CJA van, Duran M, Wadman SK, Hollander JA den, Luyten PR (1986) In vivo magnetic resonance spectroscopy and imaging of patients with adenylosuccinase deficiency. Annual Meeting of the SSIEM, abstract book P150. Amersfoort, The Netherlands

8
- 0017794615
- The role of adenosine and 2′-deoxyadenosine in mammalian cells
- (1978) Annu Rev Biochem , vol.47 , pp. 655-686
- Fox, I.H.¹ Kelley, W.N.²

9
- 0018875426
- Modulation of neurotransmission by purine nucleotides and nucleosides
- (1980) Biochem Pharmacol , vol.29 , pp. 1635-1643
- Fredholm, B.B.¹ Hedqvist, P.²

10
- 0021645906
- An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids
- (1984) Lancet , vol.2 , pp. 1058-1061
- Jaeken, J.¹ Van den Berghe, G.²

11
- 0014342859
- Urine uric acid to creatinine ratio — a screening test for inherited disorders of purine metabolism
- (1968) J Pediatr , vol.73 , pp. 583-592
- Kaufman, J.M.¹ Greene, M.L.² Seegmiller, J.E.³

12
- 0001440231
- Clinical syndromes associated with hypoxanthine-guanine phosphoribosyl transferase deficiency
- J.B., Stanbury, J.B., Wyngaarden, D.S., Fredrickson, J.L., Goldstein, Brown, Mc Graw-Hill, New York
- (1983) The metabolic basis of inherited disease , pp. 1115-1143
- Kelley, W.N.¹ Wyngaarden, J.B.²

13
- 0022542961
- Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity
- (1986) Anal Biochem , vol.156 , pp. 81-90
- Laikind, P.K.¹ Seegmiller, J.E.² Gruber, H.E.³

14
- 0015317149
- Ammonia production in muscle and other tissues: the purine nucleotide cycle
- (1972) Physiol Rev , vol.52 , pp. 382-414
- Lowenstein, J.M.¹

15
- 0022407175
- Basic and clinical aspects of adenosinergic neuromodulation
- (1985) Neurosci Biobehav Rev , vol.9 , pp. 421-430
- Marangos, P.J.¹ Boulenger, J.P.²

16
- 0017229423
- Purine nucleotide cycle. Evidence for the occurrence of the cycle in brain
- (1976) J Biol Chem , vol.251 , pp. 485-492
- Schultz, V.¹ Lowenstein, J.M.²

17
- 0022396333
- Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients
- (1985) J Clin Invest , vol.76 , pp. 2416-2419
- Sidi, Y.¹ Mitchell, B.S.²

18
- 0022459542
- Adenylosuccinase deficiency
- (1986) Adv Exp Med Biol , vol.195 A , pp. 27-33
- Van den Berghe, G.¹ Jaeken, J.²

19
- 84935847729
- Use of the Bratton-Marshall test for the diagnosis of adenylosuccinase deficiency
- (1986) Versl Belg Ver Kindergen , vol.18 , pp. 42-46
- Van den Berghe, G.¹ Jaeken, J.²

20
- 0022486041
- Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles
- (1986) Adv Exp Med Biol , vol.195 A , pp. 21-25
- Wadman, S.K.¹ de Bree, P.K.² Duran, M.³ Fabery de Jonge, H.⁴

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