SCOPUS 정보 검색 플랫폼

Volumn 19, Issue 2, 1996, Pages 223-226

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis

(8) Jaeken, J a,f Detheux, M b Van Maldergem, L c Frijns, J P a Alliet, P d Foulon, M e Carchon, H a Van Schaftingen, E b

a UNIVERSITY OF LEUVEN (Belgium)

b Institute of Cellular Pathology (Belgium)

c Institute of Morphology (Belgium)

d VIRGA JESSE HOSPITAL (Belgium)

e Civic Hospital (Belgium)

f UNIVERSITY HOSPITALS LEUVEN (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

3 PHOSPHOSERINE PHOSPHATASE; OXIDOREDUCTASE; PHOSPHATASE; PHOSPHOGLYCERATE DEHYDROGENASE; SERINE; UNCLASSIFIED DRUG;

AMINO ACID SYNTHESIS; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; CHROMOSOME 7Q; CONFERENCE PAPER; ENZYME DEFICIENCY; GENE LOCUS; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; NEWBORN; WILLIAMS BEUREN SYNDROME;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES; CARBOHYDRATE DEHYDROGENASES; CHILD; CHROMOSOMES, HUMAN, PAIR 7; CONSANGUINITY; HUMANS; INFANT; MALE; PHOSPHOGLYCERATE DEHYDROGENASE; PHOSPHORIC MONOESTER HYDROLASES; SERINE;

EID: 0029972570 PISSN: 01418955 EISSN: None Source Type: Journal
DOI: 10.1007/BF01799435 Document Type: Article

Times cited : (42)

References (7)

1
- 0027185655
- Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
- Ewart AK, Morris CA, Atkinson D, et al (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet 5: 11-16.
- (1993) Nature Genet , vol.5 , pp. 11-16
- Ewart, A.K.¹ Morris, C.A.² Atkinson, D.³

2
- 85033060805
- 3-Phosphoglycerate dehydrogenase deficiency: An inborn error of serine biosynthesis
- in press
- Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E (in press). 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child.
- Arch Dis Child
- Jaeken, J.¹ Detheux, M.² Van Maldergem, L.³ Foulon, M.⁴ Carchon, H.⁵ Van Schaftingen, E.⁶

3
- 0020566162
- Assignment of the human phosphoserine phosphatase gene (PSP) to the pter → q22 region of chromosome 7
- Koch G, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB (1983) Assignment of the human phosphoserine phosphatase gene (PSP) to the pter → q22 region of chromosome 7. Cytogenet Cell Genet 35: 67-69.
- (1983) Cytogenet Cell Genet , vol.35 , pp. 67-69
- Koch, G.¹ Eddy, R.L.² Haley, L.L.³ Byers, M.G.⁴ McAvoy, M.⁵ Shows, T.B.⁶

4
- 0023748427
- Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2
- Novelli G, Dallapicola B (1988) Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2. Ann Genet 31: 195-196.
- (1988) Ann Genet , vol.31 , pp. 195-196
- Novelli, G.¹ Dallapicola, B.²

5
- 0000059155
- Amino acids
- Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
- Scriver CR, Beaudet AL, Sly WS, Valle D (1995) Amino acids. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1015-1368.
- (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 1015-1368
- Scriver, C.R.¹ Beaudet, A.L.² Sly, W.S.³ Valle, D.⁴

6
- 0023634699
- Kinetics of neutral amino acid transport across the blood-brain barrier
- Smith QR, Momma S, Aoyagi M, Rapoport SI (1987) Kinetics of neutral amino acid transport across the blood-brain barrier. J Neurochem 49: 1651-1658.
- (1987) J Neurochem , vol.49 , pp. 1651-1658
- Smith, Q.R.¹ Momma, S.² Aoyagi, M.³ Rapoport, S.I.⁴

7
- 0021191196
- Enzymes of serine metabolism in normal, developing and neoplastic rat tissues
- Snell K (1983) Enzymes of serine metabolism in normal, developing and neoplastic rat tissues. Adv Enzym Regul 22: 325-400.
- (1983) Adv Enzym Regul , vol.22 , pp. 325-400
- Snell, K.¹

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