Abstract

References
1.
Jamieson
JD
Palade
GE
. Synthesis, intracellular transport and discharge of secretory proteins in stimulated pancreatic exorcrine cells . J Cell Biol
1971 ; 50 : 135 –58 .
2.
Harris
H
. Garrod's Inborn Errors of Metabolism . London, New York, Toronto : Oxford University Press , 1963 .
3.
Brooks
MH
Bell
NH
Love
L
Vitamin-D-dependent rickets type II. Resistance of target organs to 1–25 dihydroxy vitamin D . N Eng J Med
1978 ; 298 : 996 –9 .
4.
Sinclair
L
. A new look at the inborn errors . In: Metabolic Disease in Childhood . Oxford, London, Edinburgh, Melbourne : Blackwell
1979 : 205 –505 .
5.
Nutbeam
H
Oberholzer
V
Sinclair
L
. Magnesium transport defect . J Roy Soc Med
1979 ; 72 : 932 .
6.
Rosenberg
LE
Downing
SJ
Duvant
JL
Cystinuria: Biochemical evidence for three genetically distinct diseases . J Clin Invest
1966 ; 45 : 365 .
7.
Milne
MD
Crawford
MA
Girao
DB
The metabolic disorder in Hartnup disease . Quart J Med
1960 ; 29 : 207 .
8.
Scriver
CR
Shaw
KNF
. Hartnup disease: An example of genetically determined defective cellular amino acid transport . Canad Med Ass J
1962 ; 86 : 232 .
9.
Halvorsen
S
Hygstedt
I
Jagenburgh
R
Cellular transport in Hartnup disease . J Clin Invest
1969 ; 48 : 1552 –9 .
10.
Milne
MD
. Renal tubular dysfunction . In: Diseases of the Kidney ,
Strauss
MB
Welt
LG
, eds. Boston : Little Brown
1972 : 1071 –138 .
11.
Metz
G
Jenkins
DJA
Peters
TJ
Breath hydrogen as a diagnostic test for hypolactasia . Lancet
1975 ; i : 115 .
12.
Levin
B
Oberholzer
VG
Sinclair
L
. Biochemical investigations of hyperammonaemia . Lancet
1969 ; ii : 170 .
13.
Leigh
D
. Subacute necrotising encephalomyelopathy in an infant . J Neurol Neurosurg Psychiat
1951 ; 14 : 218 .
14.
Sinclair
L
. Leigh's encephalomyelopathy . In: Metabolic Disease in Childhood . Oxford, London, Edinburgh and Melbourne : Blackwell
1979 : 339 .
