Abstract

References
1.
Aebi
H
Baggiolini
M
Dewald
B
Lauber
E
Suter
H
Micheli
A
Frei
J
(1964 ) Enzm. Biol. Clin. (Basel)
4 , 121
2.
Aitken
R S
Allott
E N
Castleden
L I M
Walker
M
(1937 ) Clin. Sci.
3 , 47
3.
Andrade
C
(1952 ) Brain
75 , 408
4.
Arnstein
A R
Frame
B
Frost
H M
Block
M A
(1966 ) Ann. intern. Med.
64 , 996
5.
Auerbach
V H
DiGeorge
A M
(1965 ) Amer. J. med. Sci.
249 , 718
6.
Barnes
H D
(1951 ) S. Afr. J. clin. Sci.
2 , 117
7.
Baron
D N
Dent
C E
Harris
H
Hart
E W
Jepson
J B
(1956 ) Lancet
ii , 421
8.
Bateson
W
(1902 ) Mendel's Principles of Heredity. Cambridge
9.
Beadle
G W
Tatum
E L
(1941 ) Proc. not. Acad. Sei., Wash.
27 , 499
10.
Becroft
D M O
Phillips
L L
(1965 ) Brit. med. J.
i , 547
11.
Bennhold
H
Kallee
E
(1959 ) J. clin. Invest.
38 , 863
12.
Berlin
N I
Neuberger
A
Scott
J J
(1956 ) Biochem. J.
64 , 80 , 90
13.
Beutler
E
Baluda
M C
Sturgeon
P
Day
R
(1965 ) Lancet
i , 353
14.
Bickel
H
Smallwood
W C
Smellie
J M
Hickmans
E M
(1952 ) Acta pædiat, Stockh.
42 , Suppl. 90 , p 27
15.
Bongiovanni
A M
(1962 ) J. clin. Invest.
41 , 2086
16.
Catcheside
D G
(1965 ) Biochem. biophys. Res. Commun.
18 , 648
17.
Cogan
D G
Kuwabara
T
Hurlbut
C S
Jr
McMurray
V
(1958 ) J. Amer. med. Ass.
166 , 1725
18.
Cogan
D G
Kuwabara
T
Kinoshito
J
Sheehan
L
Merola
L
(1957 ) J. Amer. med. Ass.
164 , 394
19.
Crigler
J F
Najjar
V A
(1952 ) Pediatrics, Springfield
10 , 169
20.
Dean
G
(1953 ) Brit. med. J , ii , 1291
21.
Dent
C E
Rose
G A
(1951 ) Quart. J. Med.
20 , 205
22.
DiGeorge
A M
(1961 ) Trans. Stud. Coll. Phycns, Philad.
28 , 213
23.
Drummond
K N
Michael
A F
Ulstrum
R A
Good
R A
(1964 ) Amer. J. Med.
37 , 928
24.
Dubin
IN
Johnson
F B
(1954 ) Medicine, Baltimore
33 , 155
25.
Efron
M L
Bixby
E M
Pryles
C V
(1965 ) New Engl. J. Med.
272 , 1299
26.
Gandy
H M
Keutmann
E H
Izzo
A J
(1960 ) J. clin. Invest.
39 , 364
27.
Garrod
A E
(1902 ) Lancet
ii , 1616
28.
Garrod
A E
(1908 ) Lancet
ii , 142 , 173 , 214
29.
Garrod
A E
(1923 ) Inborn Errors of Metabolism.
2nd ed. London
30.
Gilbert
A
Lereboullet
P
Herscher
M
(1907 ) Bull. Soc. méd. Hop., Paris
24 , 1203
31.
Goeminne
L
(1963 ) Proc. XI International Congress of Genetics. New York
32.
Harris
H
Whittaker
M
Lehmann
H
Silk
E
(1960 ) Acta genet. (Basel)
10 , 1
33.
Hermans
P E
Gorman
C A
Martin
W J
Kelly
P J
(1964 ) Proc . Mayo Clin.
39 , 81
34.
Hers
H G
(1963 ) Biochem. J.
86 , 11
35.
Hers
H G
(1964 ) Advances in Metabolic Disorders. Ed.
Levine
R
Luft
R
New York
36.
Hodgkins
W E
Giblett
E R
Levine
G
Bauer
W
Motulsky
A G
(1965 ) J. clin. Invest.
44 , 486
37.
Hooft
C
Timmermans
J
Snoeck
J
Antener
I
Oyaert
W
van den Hinde
C
(1964 ) Lancet
ii , 20
38.
Hunt
D D
Stearns
G
McKinley
J B
Froning
E
Hicks
P
Bonfiglio
M
(1966 ) Amer. J. Med.
40 , 492
39.
Kaser
H
Cottier
P
Antener
I
(1962 ) J. Pediat.
61 , 386
40.
Krebs
H A
Henseleit
K
(1932 ) Hoppe-Sehl. Z.
210 , 33
41.
Landouzy
L
Déjèrine
J
(1885 ) Rev. méd. franc.
5 , 81 , 253
42.
Lawrence
W J C
Price
J R
1940 ) Biol. Rev.
14 , 35
43.
Lietman
P S
(1966 ) Amer. J. Med.
40 , 511
44.
Lowe
C U
Terrey
M
MacLachlan
E A
(1952 ) Amer. J. Dis. Child.
83 , 164
45.
McArdle
B
(1962 ) Brain
85 , 121
46.
Magnus
I A
(1961 ) Lancet
ii , 448
47.
Mann
J B
Alterman
S
Hills
A G
(1962 ) Ann. intern. Med.
56 , 315
48.
Marble
A
(1932 ) Amer. J. med. Sci.
183 , 811
49.
Mendel
G
(1865 ) Verh. naturf. Ver. Brünn
4 , 1
50.
Mendel
G
(1901 ) Versuche über Pflanzhybriden. Leipzig
51.
Menkes
J H
Hurst
P L
Craig
J M
(1954 ) Pediatrics, Springfield
14 , 462
52.
Milne
M D
(1964 ) Brit. med. J.
i , 327
53.
Milne
M D
Asatoor
A M
Edwards
K D G
Loughridge
L W
(1961 ) Gut
2 , 323
54.
Milne
M D
Crawford
M A
Girao
C B
Loughridge
L W
(1960 ) Quart. J. Med.
29 , 407
55.
Minozzi
M
(1963 ) Folia Endocr. (Roma)
16 , 168
56.
Muckle
T J
Wells
M
(1962 ) Quart. J. Med.
31 , 235
57.
Nakao
K
(1966 ) Nature, Lond.
210 , 838
58.
Poskanzer
D C
Kerr
DNS
(1961 ) Amer. J. Med.
31 , 328
59.
Rotor
A B
Manahan
L
Florentin
A
(1948 ) Acta med. philipp.
5 , 37
60.
Rukavina
J C
(1956 ) J. Lab. clin. Med.
47 , 365
61.
Scriver
C R
(1966 ) Pediatrics, Springfield
37 , 553
62.
Scriver
C R
Schafer
I A
Efron
M L
(1961 ) Nature, Lond.
192 , 672
63.
Segal
S
Blair
A
Roth
H
(1965 ) Amer. J. Med.
38 , 62
64.
Seidin
D W
Wilson
J D
(1966 ) In: The Metabolie Basis of Inherited Disease.
2nd ed. Ed.
Stanbury
J B
Wyngaarden
J B
Fredrickson
D S
New York; p 1230
65.
Shy
G M
Magee
K R
(1956 ) Brain
79 , 610
66.
Smith
A J
Strang
L B
(1958 ) Arch. Dis. Childh.
33 , 109
67.
Smith
L H
Jr
Sullivan
M
Huguley
C M
Jr
(1961 ) J. clin. Invest.
40 , 656
68.
Sweeney
G D
(1965 ) S. Afr. med. J.
39 , 1075
69.
de Vries
A
Kochwa
S
Lazebnik
J
Frank
M
Djaldetti
M
(1957 ) Amer. J. Med.
23 , 408
70.
Wada
Y
(1963 ) Tohoku J. exp. Med.
51 , 46
71.
Waldenström
J
(1937 ) Acta med. scand. Suppl.
82
72.
Wheldale
M
(1909 ) Proc. Camb. phil. Soc.
15 , 137
73.
Wilkinson
J H
(1965 ) Isoenzymes. London
