-
1
-
-
0015894662
-
Report on a cooperative study of various fluorometric procedures and the Guthrie bacterial inhibition assay in the determination of hyperphenylalanmemia
-
Ambrose JA. 1973. Report on a cooperative study of various fluorometric procedures and the Guthrie bacterial inhibition assay in the determination of hyperphenylalanmemia. Health Lab Sci 10:180-187.
-
(1973)
Health Lab Sci
, vol.10
, pp. 180-187
-
-
Ambrose, J.A.1
-
2
-
-
0001711681
-
Studies on phenylketonuna. 1. Restricted phenylalanine intake in phenylketonuria
-
Armstrong MD, Tyler FH. 1955. Studies on phenylketonuna. 1. Restricted phenylalanine intake in phenylketonuria. J Clin Invest 34:565-580.
-
(1955)
J Clin Invest
, vol.34
, pp. 565-580
-
-
Armstrong, M.D.1
Tyler, F.H.2
-
3
-
-
0003042138
-
Influence of phenylalanine intake on the chemistry and behavior of a phenylketonuric child
-
Bickel H, Gerrard JW, Hickmans EM. 1954. Influence of phenylalanine intake on the chemistry and behavior of a phenylketonuric child. Acta Pediat 43:64-77.
-
(1954)
Acta Pediat
, vol.43
, pp. 64-77
-
-
Bickel, H.1
Gerrard, J.W.2
Hickmans, E.M.3
-
4
-
-
0020580353
-
Determination of phenylalanine in filter paper blood spots by a simplified automated fluorometric method without dialysis
-
Blau K. 1983. Determination of phenylalanine in filter paper blood spots by a simplified automated fluorometric method without dialysis. Clin Chim Acta 129:197-200.
-
(1983)
Clin Chim Acta
, vol.129
, pp. 197-200
-
-
Blau, K.1
-
5
-
-
84990151888
-
Psychological reactions in 102 families with a newborn who has a falsely positive screening test for congenital hypothyroidism
-
Bodegard G, Fyro K, Larsson A. 1983. Psychological reactions in 102 families with a newborn who has a falsely positive screening test for congenital hypothyroidism. Acta Paediatr Scand (Suppl. 304):1-21.
-
(1983)
Acta Paediatr Scand
, Issue.SUPPL. 304
, pp. 1-21
-
-
Bodegard, G.1
Fyro, K.2
Larsson, A.3
-
7
-
-
50349138974
-
Detection of amino-acids in urine and other fluids
-
Dent CE, 1946. 1991. Detection of amino-acids in urine and other fluids. Lancet 2:637-639.
-
(1946)
Lancet
, vol.2
, pp. 637-639
-
-
Dent, C.E.1
-
8
-
-
0026088909
-
Detection of phenylketonuria in the very early newborn specimen
-
Doherty LB, Rohr FJ, Levy HL. 1991. Detection of phenylketonuria in the very early newborn specimen. Pediatrics 87:240-244.
-
(1991)
Pediatrics
, vol.87
, pp. 240-244
-
-
Doherty, L.B.1
Rohr, F.J.2
Levy, H.L.3
-
9
-
-
75949147186
-
A simple chromatographic screening test for the detection of disorders of amino acid metabolism
-
Efron ML, Young D, Moser HW, et al. 1964. A simple chromatographic screening test for the detection of disorders of amino acid metabolism. N Engl J Med 270:1378-1383.
-
(1964)
N Engl J Med
, vol.270
, pp. 1378-1383
-
-
Efron, M.L.1
Young, D.2
Moser, H.W.3
-
10
-
-
84941432771
-
Uber ausscheidung von phenylbrenztraubensaure in den harn als stoffwechselanomalie in verbindung mit imbezillitat
-
Folling A. 1934. Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitat. Hoppe Seyler's Z Physiol Chem 227:169-175.
-
(1934)
Hoppe Seyler's Z Physiol Chem
, vol.227
, pp. 169-175
-
-
Folling, A.1
-
11
-
-
0024423690
-
Fluorometric method for phenylalanine microplate assay adapted for phenylketonuna screening
-
Gerasimova NS, Steklova IV, Tuuminen T. 1989. Fluorometric method for phenylalanine microplate assay adapted for phenylketonuna screening. Clin Chem 35:2112-2115.
-
(1989)
Clin Chem
, vol.35
, pp. 2112-2115
-
-
Gerasimova, N.S.1
Steklova, I.V.2
Tuuminen, T.3
-
12
-
-
0028603448
-
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias
-
Guldberg P, Levy HL, Koch R., et al. 1994. Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias. J Inher Metab Dis 17:645-651.
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 645-651
-
-
Guldberg, P.1
Levy, H.L.2
Koch, R.3
-
13
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations ot newborn infants
-
Guthrie R, Susi A. 1963. A simple phenylalanine method for detecting phenylketonuria in large populations ot newborn infants. Pediatrics 32:338-343.
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
14
-
-
0006949752
-
An automated procedure for blood phenylalanine
-
Hill JB, Summer GK, Pender MW, et al. 1965. An automated procedure for blood phenylalanine. Clin Chem 11:541-546.
-
(1965)
Clin Chem
, vol.11
, pp. 541-546
-
-
Hill, J.B.1
Summer, G.K.2
Pender, M.W.3
-
15
-
-
0022506692
-
Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism
-
Holtzman C, Slazyk WE, Cordero JF, et al. 1986. Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics 78:553-558.
-
(1986)
Pediatrics
, vol.78
, pp. 553-558
-
-
Holtzman, C.1
Slazyk, W.E.2
Cordero, J.F.3
-
16
-
-
0028219176
-
Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method
-
Jew K, Kan K, Koch R, et al. 1994. Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method. Screening 3:1-9.
-
(1994)
Screening
, vol.3
, pp. 1-9
-
-
Jew, K.1
Kan, K.2
Koch, R.3
-
17
-
-
0028197091
-
Neonatal screening for phenylketonuria: Evaluation of an automated enzymatic method
-
Keffler S, Denmeade R, Green A. 1994. Neonatal screening for phenylketonuria: Evaluation of an automated enzymatic method. Ann Clin Biochem 31:134-139.
-
(1994)
Ann Clin Biochem
, vol.31
, pp. 134-139
-
-
Keffler, S.1
Denmeade, R.2
Green, A.3
-
18
-
-
0022606741
-
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders
-
Ledley FD, Levy HL, Woo SLC. 1986. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. N Engl J Med 314:1276-1280.
-
(1986)
N Engl J Med
, vol.314
, pp. 1276-1280
-
-
Ledley, F.D.1
Levy, H.L.2
Woo, S.L.C.3
-
19
-
-
0028128365
-
Effect of specimen collection method on newborn screening for PKU
-
Lorey FW, Cunningham GC. 1994. Effect of specimen collection method on newborn screening for PKU. Screening 3:57-65.
-
(1994)
Screening
, vol.3
, pp. 57-65
-
-
Lorey, F.W.1
Cunningham, G.C.2
-
20
-
-
0344015677
-
Phenylketonuria in the newborn
-
MacCready RA. 1963. Phenylketonuria in the newborn. Lancet 2:46.
-
(1963)
Lancet
, vol.2
, pp. 46
-
-
MacCready, R.A.1
-
21
-
-
0007711197
-
Newborn phenylketonuria detection program in Massachusetts
-
MacCready RA, Hussey MG. 1964. Newborn phenylketonuria detection program in Massachusetts. AmJ Public Health 54:2075-2081.
-
(1964)
AmJ Public Health
, vol.54
, pp. 2075-2081
-
-
MacCready, R.A.1
Hussey, M.G.2
-
22
-
-
85070031632
-
Neonatal screening for dependents of active-duty military personnel
-
McCabe ERB. 1992. Neonatal screening for dependents of active-duty military personnel. Pediatrics 90:130-131.
-
(1992)
Pediatrics
, vol.90
, pp. 130-131
-
-
McCabe, E.R.B.1
-
23
-
-
1542560237
-
Fluorometric method for the determination of phenylalanine in serum
-
McCaman MW, Robins E. 1962. Fluorometric method for the determination of phenylalanine in serum. J Lab Clin Med 59:885-890.
-
(1962)
J Lab Clin Med
, vol.59
, pp. 885-890
-
-
McCaman, M.W.1
Robins, E.2
-
24
-
-
0028206569
-
Early discharge from the newborn nursery: A potential threat to effective newborn screening
-
Naruse H, Levy HL. 1994. Early discharge from the newborn nursery: A potential threat to effective newborn screening [Editorial]. Screening 3:45-48.
-
(1994)
Screening
, vol.3
, pp. 45-48
-
-
Naruse, H.1
Levy, H.L.2
-
25
-
-
0026335141
-
Rapid automated quantitation of isoleucine, leucine, tyrosine, and phenylalanine from dried blood filter paper specimens
-
Qu Y, Miller JB, Slocum RH, et al. 1991. Rapid automated quantitation of isoleucine, leucine, tyrosine, and phenylalanine from dried blood filter paper specimens. Clin Chim Acta 203:191-198.
-
(1991)
Clin Chim Acta
, vol.203
, pp. 191-198
-
-
Qu, Y.1
Miller, J.B.2
Slocum, R.H.3
-
26
-
-
0009860488
-
Application of a simple micromethod in the screening of plasma for a variety of aminoacidopathies
-
Scriver CR, Davies E, Cullen AM. 1964. Application of a simple micromethod in the screening of plasma for a variety of aminoacidopathies. Lancet 2:230-232.
-
(1964)
Lancet
, vol.2
, pp. 230-232
-
-
Scriver, C.R.1
Davies, E.2
Cullen, A.M.3
-
27
-
-
0003720078
-
The hyperphenylalaninemias
-
Scriver CR, Beaudet AL, Sly WS, et al., editors. New York: McGraw-Hill
-
Scriver CR, Kaufman S, Eisensmith RC, et al. 1995. The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill. p 1015-1075.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Ed.
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Eisensmith, R.C.3
-
28
-
-
0018347878
-
An evaluation of routine follow-up blood screening of infants for phenylketonuria
-
Sepe SJ, Levy HL, Mount FW. 1979. An evaluation of routine follow-up blood screening of infants for phenylketonuria. N Engl J Med 300:606-609.
-
(1979)
N Engl J Med
, vol.300
, pp. 606-609
-
-
Sepe, S.J.1
Levy, H.L.2
Mount, F.W.3
-
29
-
-
0024534925
-
Diagnosing galactosemia: False negative newborn screening following red blood cell transfusion
-
Sokol RJ, McCabe ERB, Kotzer AM, et al. 1989. Diagnosing galactosemia: False negative newborn screening following red blood cell transfusion. J Pediatr Gastroenterol Nutr 8:266-268.
-
(1989)
J Pediatr Gastroenterol Nutr
, vol.8
, pp. 266-268
-
-
Sokol, R.J.1
McCabe, E.R.B.2
Kotzer, A.M.3
-
30
-
-
0021289156
-
Parental response to repeat testing of infants with "false positive" results in a newborn screening program
-
Sorenson JR, Levy HL, Mangione TW, et al. 1984. Parental response to repeat testing of infants with "false positive" results in a newborn screening program. Pediatrics 73:183-187.
-
(1984)
Pediatrics
, vol.73
, pp. 183-187
-
-
Sorenson, J.R.1
Levy, H.L.2
Mangione, T.W.3
-
31
-
-
84965277203
-
Phenylketonuria: A reassessment of mass infant screening by napkin test
-
Stephenson JBP, McBean MS. 1967. Phenylketonuria: A reassessment of mass infant screening by napkin test. Brit Med J 2:582.
-
(1967)
Brit Med J
, vol.2
, pp. 582
-
-
Stephenson, J.B.P.1
McBean, M.S.2
-
32
-
-
0025092485
-
A new approach to the newborn screening for hyperphenylalaninemias: Use of L-phenylalanine dehydrogenase and microtitier plates
-
Wendel U, Koppelkamm M, Hummel W, et al. 1990. A new approach to the newborn screening for hyperphenylalaninemias: use of L-phenylalanine dehydrogenase and microtitier plates. Clin Chim Acta 192:165-170.
-
(1990)
Clin Chim Acta
, vol.192
, pp. 165-170
-
-
Wendel, U.1
Koppelkamm, M.2
Hummel, W.3
-
33
-
-
0018399485
-
Changing incidence of neonatal hypermethioninaemia: Implications for the detection of homocystinuria
-
Whiteman PD, Clayton BE, Ersser RS, et al. 1979. Changing incidence of neonatal hypermethioninaemia: Implications for the detection of homocystinuria. Arch Dis Child 54:593-598.
-
(1979)
Arch Dis Child
, vol.54
, pp. 593-598
-
-
Whiteman, P.D.1
Clayton, B.E.2
Ersser, R.S.3
|