-
Genetic, clinical, biochemical, and pathological features of hypophosphatasia; based on the study of a family.
Q J Med. 1956 Oct;25(100):523-37
PMID: 13379604
-
Congenital familial nonhemolytic jaundice with kernicterus.
Pediatrics. 1952 Aug;10(2):169-80
PMID: 12983120
-
Studies on agammaglobulinemia. II. Failure of plasma cell formation in the bone marrow and lymph nodes of patients with agammaglobulinemia.
J Lab Clin Med. 1955 Aug;46(2):167-81
PMID: 13242936
-
Parahemophilia in three siblings (Owren's disease).
Am J Med. 1952 Sep;13(3):255-72
PMID: 12985584
-
Hereditary spherocytosis.
Am J Med. 1955 Mar;18(3):486-97
PMID: 14349974
-
Hypercholesteremia with predisposition to atherosclerosis, an inborn error of lipid metabolism.
Am J Med. 1951 Nov;11(5):600-14
PMID: 14894461
-
The carrier state in nephrogenic diabetes insipidus.
Lancet. 1956 Nov 24;271(6952):1069-73
PMID: 13377673
-
A laboratory study of the carrier state in classic hemophilia.
J Clin Invest. 1956 Nov;35(11):1316-23
PMID: 13376725
-
Glycogen-storage disease of liver.
Br Med J. 1956 Apr 21;1(4972):893-7
PMID: 13304369
-
Studies on the metabolism of adrenal steroids in the adrenogenital syndrome.
J Clin Endocrinol Metab. 1954 Apr;14(4):409-22
PMID: 13152167
-
The Inheritance of Sickle Cell Anemia.
Science. 1949 Jul 15;110(2846):64-6
PMID: 17774955
-
Parahemophilia.
AMA Arch Intern Med. 1955 Feb;95(2):194-201
PMID: 13227645
-
The heredity of gout and its relationship to familial hyperuricemia.
Ann Intern Med. 1949 Oct;31(4):595-614
PMID: 15390533
-
Assay of L-phenylalanine as phenylethylamine after enzymatic decarboxylation; application to isotopic studies.
J Biol Chem. 1953 Aug;203(2):953-60
PMID: 13084665
-
Note on the Genetics of Hypercholesterolemia.
Science. 1949 Jan 21;109(2821):61-2
PMID: 17777132
-
Congenital afibrinogenemia.
Pediatrics. 1954 Jan;13(1):44-58
PMID: 13133552
-
New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor.
Proc Soc Exp Biol Med. 1953 Jan;82(1):171-4
PMID: 13037836
-
Familial hypoglycemosis of probable genetic origin.
Am J Hum Genet. 1950 Sep;2(3):264-8
PMID: 14810690
-
Metabolic abnormalities in hypophosphatasia.
Lancet. 1955 Feb 5;268(6858):286
PMID: 13234354
-
The familial nature of the amino-aciduria of Wilson's disease (hepatolenticular degeneration).
Am J Med Sci. 1952 Apr;223(4):392-400
PMID: 14914748
-
Effect of antihemophilic factor on one-stage clotting tests; a presumptive test for hemophilia and a simple one-stage antihemophilic factor assy procedure.
J Lab Clin Med. 1953 Apr;41(4):637-47
PMID: 13045017
-
On the nature of the blood coagulation mechanisms in certain clinical states.
Am J Clin Pathol. 1955 Sep;25(9):983-7
PMID: 13248822
-
Nephrogenic diabetes insipidus.
Pediatrics. 1955 Apr;15(4):424-32
PMID: 14370874
-
Biochemical and pathological studies of congenital porphyria.
Q J Med. 1953 Jul;22(87):285-94
PMID: 13100602
-
Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.
Pediatrics. 1954 Feb;13(2):133-9
PMID: 13133561
-
The female carrier of haemophilia. A clinical and laboratory study.
Lancet. 1951 Mar 3;1(6653):487-90
PMID: 14805104
-
Phenotypes and genotypes in cystinuria.
Ann Hum Genet. 1955 Aug;20(1):57-91
PMID: 13249226
-
Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood.
Pediatrics. 1953 Apr;11(4):309-22
PMID: 13055342
-
Inborn errors of lipid metabolism; clinical, genetic, and chemical aspects.
AMA Arch Pathol. 1955 Nov;60(5):481-92
PMID: 13268186
-
Iron metabolism; hematopoiesis following phlebotomy; iron as a limiting factor.
J Clin Invest. 1950 Aug;29(8):1078-86
PMID: 15436877
-
A study of the genetics of galactosaemia.
Arch Dis Child. 1955 Apr;30(150):155-9
PMID: 14377623
-
Localization of Cu64 in serum fractions following oral administration: an alteration in Wilson's disease.
Proc Soc Exp Biol Med. 1954 Jan;85(1):44-8
PMID: 13134284
-
Genetics of the lipidoses.
Res Publ Assoc Res Nerv Ment Dis. 1954;33:239-58
PMID: 13246081
-
The occurrence of mono- and di-iodotyrosine in the blood of a patient with congenital goiter.
J Clin Endocrinol Metab. 1955 Oct;15(10):1216-27
PMID: 13263411
-
Congenital afibrinogenemia; report of a case.
N Engl J Med. 1953 Mar 26;248(13):552-4
PMID: 13036995
-
Sickle cell anemia a molecular disease.
Science. 1949 Nov 25;110(2865):543-8
PMID: 15395398
-
Elliptocytosis with hemolytic anemia: the effects of splenectomy.
Pediatrics. 1955 Jan;15(1):67-83
PMID: 13224248
-
Congenital galactosemia, a single enzymatic block in galactose metabolism.
Science. 1956 Apr 13;123(3198):635-6
PMID: 13311516
-
Serum iron and iron-binding capacity of the serum in children with severe Mediterranean (Cooley's) anemia.
Pediatrics. 1950 May;5(5):799-807
PMID: 15417281
-
[Hemolytic anemia in a big family; thirteen cases of Minkowski-Chauffard disease in one family].
Sem Hop. 1952 Dec 14;28(92):3741-4
PMID: 13028490
-
Idiopathic familial hyperlipemia.
AMA Am J Dis Child. 1951 Aug;82(2):153-9
PMID: 14856379
-
Study of variations of the coeruloplasmin by an easy technique.
Proc R Soc Med. 1953 Dec;46(12):1061-2
PMID: 13120836
-
THE GENETICS OF GOUT AND HYPERURICEMIA-AN ANALYSIS OF NINETEEN FAMILIES.
J Clin Invest. 1948 Nov;27(6):749-59
PMID: 16695598
-
The detection of the genetic carriers of hereditary disease.
Am J Hum Genet. 1949 Sep;1(1):19-36
PMID: 17948380
-
Congenital hypoprothrombinemic states.
AMA Arch Intern Med. 1955 Jan;95(1):2-14
PMID: 13217497
-
An approach to the prediction of diabetes mellitus by modification of the glucose tolerance test with cortisone.
Diabetes. 1954 Jul-Aug;3(4):296-302; discussion, 302-4
PMID: 13210153
-
Familial factor V deficiency: the pattern of heredity.
Q J Med. 1954 Jul;23(91):323-9
PMID: 13194849
-
THE INTERRELATIONS OF SERUM LIPIDS IN NORMAL PERSONS.
J Clin Invest. 1943 Sep;22(5):707-14
PMID: 16695054
-
Genetic studies on hypercholesteremia: frequency in a hospital population and in families of hypercholesteremic index patients.
Am Heart J. 1953 Jul;46(1):99-116
PMID: 13057820
-
Genetic and biochemical studies of intermediate types of Cooley's anaemia.
Br J Haematol. 1955 Jul;1(3):264-77
PMID: 13240015
-
Activity of plasma labile factor in disease.
Lancet. 1951 Mar 17;1(6655):606-10
PMID: 14805135
-
Genetic and biochemical aspects of Wilson's disease.
Am J Med. 1953 Oct;15(4):442-9
PMID: 13092113
-
Congenital familial deficiency of the stable prothrombin conversion factor; restudy of case originally reported as idiopathic hypoprothrombinemia.
J Lab Clin Med. 1953 Aug;42(2):212-23
PMID: 13069867
-
Newer approaches to the study of hemophilia and hemophilioid states.
J Am Med Assoc. 1954 Feb 6;154(6):481-6
PMID: 13117642
-
Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis.
Medicine (Baltimore). 1955 Dec;34(4):381-430
PMID: 13272508
-
The excretion of phosphoethanolamine and hypophosphatasia.
Lancet. 1955 Jan 15;268(6855):131
PMID: 13222868
-
Mild hemophilia; allelic form of the disease.
Am J Med Sci. 1953 Jan;225(1):46-53
PMID: 13007695
-
Inheritance of nephrogenic diabetes insipidus.
Am J Hum Genet. 1954 Sep;6(3):354-8
PMID: 13197364
-
Detection of the heterozygous carriers of phenylketonuria.
Lancet. 1956 Dec 29;271(6957):1337-8
PMID: 13386256
-
Virilizing adrenal hyperplasia; a genetic and hormonal study.
J Clin Invest. 1956 Feb;35(2):213-22
PMID: 13286340
-
Variable manifestations of plasma thromboplastin component deficiency.
J Lab Clin Med. 1955 Jul;46(1):80-8
PMID: 14392402
-
Hereditary forms of rickets and osteomalacia.
J Bone Joint Surg Br. 1956 Feb;38-B(1):204-26
PMID: 13295329
-
The metabolism of iodotyrosines. II. The metabolism of mono- and diiodotyrosine in certain patients with familial goiter.
J Clin Endocrinol Metab. 1956 Jul;16(7):848-68
PMID: 13332049
-
Parahemophilia (Owren's disease); report of a case in a woman with studies on other members of her family.
J Lab Clin Med. 1951 Dec;38(6):842-5
PMID: 14889071
-
Microcytemia, constitutional microcytic anemia, and Cooley's anemia.
Am J Hum Genet. 1949 Sep;1(1):83-93
PMID: 17948386
-
[Metabolism of iron in the descendants of patients with bronze cirrhosis].
Bull Mem Soc Med Hop Paris. 1952 May 23-30;68(18-19):665-9
PMID: 14954485
-
Idiopathic hypoprothrombinemia.
Ann Intern Med. 1950 Aug;33(2):467-73
PMID: 15433137
-
The thromboplastin generation test.
J Clin Pathol. 1953 Feb;6(1):23-9
PMID: 13034914
-
Familial congenital labile factor deficiency with syndactylism; investigation on the mode of action of the labile factor.
Acta Haematol. 1951 Mar;5(3):129-42
PMID: 14818695
-
Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of problem and treatment.
AMA Am J Dis Child. 1954 Apr;87(4):399-428
PMID: 13147532
-
Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.
Lancet. 1956 Sep 1;271(6940):421-8
PMID: 13358233
-
Hereditary spherocytosis. I. Clinical, hematologic and genetic features in 28 cases, with particular reference to the osmotic and mechanical fragility of incubated erythrocytes.
Blood. 1951 Nov;6(11):1073-98
PMID: 14869368
-
Hereditary deficiency of proaccelerin (parahemophilia): a family study.
J Lab Clin Med. 1955 Jul;46(1):98-110
PMID: 14392404
-
The life span of the elliptocyte; hereditary elliptocytosis and its relationship to other familial hemolytic diseases.
Blood. 1954 Jan;9(1):57-72
PMID: 13115472