Disorders of Amino-Acid Transport

Qualitative analysis of proteins: a partition chromatographic method using paper

1944 • 1,564 citations

Penicillamine, a new oral therapy for Wilson's disease

1956 • 694 citations

THE EXCRETION OF ACID IN RENAL DISEASE

1959 • 687 citations

A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE

1954 • 408 citations

HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURES

1956 • 402 citations

ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION<subtitle>A Clinical Entity</subtitle>

1952 • 397 citations

The Metabolic Basis of Inherited Disease.

1961 • 371 citations

Effect of Penicillamine on Cystinuria

1963 • 251 citations

IDIOPATHIC HYPERGLYCINEMIA AND HYPERGLYCINURIA: A NEW DISORDER OF AMINO ACID METABOLISM. I

1961 • 249 citations

Disulphide interchange reactions

1955 • 235 citations

THE CONCENTRATIONS OF CYSTEINE AND CYSTINE IN HUMAN BLOOD PLASMA

1960 • 227 citations

A DISEASE, PROBABLY HEREDITARY, CHARACTERISED BY SEVERE MENTAL DEFICIENCY AND A CONSTANT GROSS ABNORMALITY OF AMINOACID METABOLISM

1958 • 219 citations

STUDIES ON THE TREATMENT OF CYSTINURIA1

1955 • 205 citations

RENAL TUBULAR MALFUNCTION AND PULMONARY EMPHYSEMA IN CADMIUM PIGMENT WORKERS

1963 • 176 citations

In Vitro Method for the Study of the Rate of Intestinal Absorption of Sugars

1958 • 174 citations

Urinary excretion of amino acids by men absorbing heavy metals

1956 • 164 citations

The intestinal absorption defect in cystinuria

1961 • 162 citations

Renal clearances of amino acids in normal adults and in patients with aminoaciduria

1960 • 150 citations

A Familial Disturbance of Histidine Metabolism

1961 • 148 citations

Experimental Production of Renal Glycosuria, Phosphaturia, and Aminoaciduria by Injection of Maleic Acid

1954 • 148 citations

β-Aminoisobutyric Acid (α-Methyl-β-Alanine): A New Amino-Acid Obtained from Human Urine

1951 • 146 citations

An experimental malabsorption syndrome induced by neomycin

1960 • 145 citations

The uptake of amino acids by the intestine

1954 • 141 citations

Selective absorption of stereo-isomers of amino-acids from loops of the small intestine of the rat

1951 • 136 citations

AMINO‐ACID METABOLISM IN CYSTINURIA

1952 • 132 citations

Multiple myeloma and the adult Fanconi syndrome

1957 • 128 citations

Renal function studies in an adult subject with the Fanconi syndrome

1954 • 123 citations

Pyrrolidine and Putrescine Metabolism: γ-Aminobutyraldehyde Dehydrogenase

1959 • 122 citations

Interactions of amino acids in renal tubular transport

1961 • 112 citations

Pathogenesis and management of hepatic coma

1958 • 111 citations

CYSTATHIONINURIA

1959 • 108 citations

Treatment of Lead-poisoning with Oral Penicillamine

1963 • 99 citations

The effect of intravenous lysine on the renal clearances of cystine, arginine and ornithine in normal subjects, in patients with cystinuria and Fanconi syndrome and in their relatives.

1957 • 98 citations

Effect of Infusion of Single Amino Acids Upon Excretion of Other Amino Acids

1951 • 98 citations

Histidinemia

1962 • 94 citations

New Renal Tubular Amino-Acid Transport System and a New Hereditary Disorder of Amino-Acid Metabolism

1961 • 93 citations

Active transport of lysine, ornithine, arginine and cystine by the intestine

1961 • 89 citations

AMINO-ACIDURIA IN LEAD POISONING A CASE IN CHILDHOOD

1953 • 88 citations

Use of dimercaprol or pencillamine in the treatment of cystinosis.

1961 • 71 citations

CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA.

1963 • 61 citations

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism

1961 • 60 citations

AMINO-ACIDURIA, HYPOPHOSPHATEMIA, AND RICKETS IN LEAD POISONING<subtitle>Study of a Case</subtitle>

1955 • 60 citations

Metabolic balance studies in hepatolenticular degeneration treated with diethyldithiocarbamate

1963 • 57 citations

The Pathogenesis of Cystinuria. I. Chromatographic and Microbiological Studies of the Metabolism of Sulphur-Containing Amino-Acids

1954 • 56 citations

On the mechanism of sugar elimination in phlorrhizin glycosuria. A contribution to the filtration‐reabsorption theory on kidney function

1930 • 55 citations

The de Toni-Fanconi Syndrome with Cystinosis

1958 • 52 citations

Stature and Nutrition in Cystinuria and Hartnup Disease

1963 • 50 citations

Amino acid clearances in cystinuria

1958 • 47 citations

Fanconi syndrome with hypouricemia in an adult

1961 • 46 citations

GROSS AMINO-ACIDURIA FOLLOWING A LYSOL BURN

1952 • 45 citations

RICKETS AND AMINO-ACIDURIA

1952 • 44 citations

AMINO ACIDURIA AND ASCORBIC ACID DEFICIENCY

1954 • 43 citations

Some aspects of disordered renal tubular function.

1958 • 43 citations

Lead-poisoning in Children

1955 • 41 citations

Malabsorptive Effects of Neomycin in Commonly Used Doses

1961 • 39 citations

The degradative metabolism of <scp>l</scp>-cysteine and <scp>l</scp>-cystine in vitro by liver in cystinosis

1962 • 39 citations

INDOLE PRODUCTION IN HARTNUP DISEASE

1963 • 35 citations

Renal clearance of lysine in cystinuria

1957 • 34 citations

The de Toni—Fanconi Syndrome with Cystinosis1

1951 • 33 citations

Demonstration of Cystine Crystals in Peripheral White Blood Cells in a Patient with Cystinosis

1960 • 29 citations

Malabsorption Induced by Small Doses of Neomycin Sulphate

1963 • 28 citations

A Case of Histidinaemia

1963 • 25 citations

Lead poisoning in children.

1963 • 24 citations

A Case of Hartnup Disease

1958 • 24 citations

Pathogénie Du Diabète Rénal

1949 • 22 citations

The association of the Fanconi syndrome with malignant disease.

1956 • 22 citations

Biochemical disorders in human disease

1958 • 20 citations

Photodermatose mit Aminoacidurie, Indolaceturie und cerebralen Manifestationen (Hartnup-Syndrom)

1958 • 20 citations

CITRULLINURIA.

1963 • 17 citations

Nephrotic-glucosuric-aminoaciduric dwarfism and electrolyte metabolism.

1955 • 16 citations

Malabsorption during Neomycin Administration

1961 • 12 citations

Pellagra in an English Child

1955 • 12 citations

PENICILLAMINE AND MIXED DISULPHIDE EXCRETION IN WILSON'S DISEASE

1963 • 10 citations

Selective Disappearance of Stereoisomers of Amino Acids From the Human Small Intestine

1954 • 10 citations

Aminos�uren-Verf�tterung und Tubulusschaden

1956 • 10 citations

On the action of phlorhizin on the kidney

1923 • 9 citations

[Amino acid metabolism].

1950 • 8 citations

Amino-acidura in acute tubular necrosis.

1956 • 6 citations

[Phenylpyruvic oligophrenia & heart defects].

1957 • 5 citations

[Development of biochemical lesions in the Lignac-Fanconi syndrome].

1955 • 4 citations

[Anatomical and functional changes of liver in experimental poisoning with cystine].

1957 • 3 citations

A FATAL CASE OF ACUTE PHOSPHORUS POISONING

1959 • 3 citations

[Amino acid feeding and tubular damage. I. Aminoaciduria in rabbits after cystine feeding].

1956 • 2 citations

[Chromatographic study of a case of gluco-amino-phosphate diabetes].

1958 • 1 citations

[Reversible functional disorders of the renal tubules after the administration of arginine (functional cystinuria)].

1960 • 1 citations

[Research on renal diabetes; mechanism of glycosuria].

1951 • 1 citations