Advances in the Treatment of Inherited Metabolic Diseases (Q40084938)

17 September 2017

1 reference

title

Advances in the treatment of inherited metabolic diseases (English)

1 reference

17 September 2017

Advances in the Treatment of Inherited Metabolic Diseases (English)

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

8 August 2023

author name string

R. J. Desnick

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6115548

8 August 2023

G. A. Grabowski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6115548

8 August 2023

language of work or name

1 reference

1 January 1981

1 reference

full work available at URL

17 September 2017

http://link.springer.com/content/pdf/10.1007/978-1-4615-8303-5_5.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Advances in human genetics

8 August 2023

published in

1 reference

17 September 2017

11

1 reference

17 September 2017

281-369

1 reference

Toward enzyme therapy for lysosomal storage diseases

17 September 2017

6

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

8 August 2023

8

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Phenylketonuria due to a deficiency of dihydropteridine reductase

8 August 2023

9

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria

8 August 2023

10

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis

8 August 2023

12

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzymatic control of phenylalanine intake in phenylketonuria

8 August 2023

13

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Dietary treatment of homocystinuria

8 August 2023

18

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA).

8 August 2023

21

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

“Disappearance” of cystinuria in a patient treated with prolonged low methionine diet

8 August 2023

24

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Dietary methionine and its influence on cystine excretion in cystinuric patients

8 August 2023

25

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Treatment of Carbamyl Phosphate Synthetase Deficiency with Keto Analogues of Essential Amino Acids

8 August 2023

31

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet

8 August 2023

33

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Hepatolenticular degeneration: The comparative effectiveness of D-penicillamine, potassium sulfide, and diethyldithiocarbamate as decoppering agents

8 August 2023

35

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

HEPATO-LENTICULAR DEGENERATION (WILSON'S DISEASE) TREATED BY PENICILLAMINE

8 August 2023

36

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

FURTHER OBSERVATIONS ON USE OF D-PENICILLAMINE IN CYSTINURIA

8 August 2023

38

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Prevention of iron loading in transfusion-dependent thalassaemia

8 August 2023

39

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Cholestyramine in type II hyperlipoproteinemia. A double-blind trial

8 August 2023

40

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Hyperuricemia and gout. Classification, complications and management

8 August 2023

42

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

New pathways of nitrogen excretion in inborn errors of urea synthesis

8 August 2023

43

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Arginine therapy of argininosuccinase deficiency

8 August 2023

44

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Therapeutic Effects of Glycine in Isovaleric Acidemia

8 August 2023

47

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Glycine therapy in isovaleric acidemia

8 August 2023

48

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Isovaleric acidemia: use of glycine therapy in neonates

8 August 2023

49

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias

8 August 2023

50

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange

8 August 2023

51

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Plasma-exchange therapy of homozygous familial hypercholesterolemia

8 August 2023

54

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Molecular pathology of Fabry's disease physical and kinetic properties of α-galactosidase a in cultured human endothelial cells

8 August 2023

57

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

A new approach to the management of familial hypercholesterolaemia: Removal of plasma-cholesterol based on the principle of affinity chromatography

8 August 2023

59

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Removal of cholesterol from blood by affinity binding to heparin-agarose: evaluation on treatment in homozygous familial hypercholesterolemia

8 August 2023

60

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

8 August 2023

61

55

180

EA Burgstaler

1980

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Portacaval transposition in the treatment of glycogen-storage disease

8 August 2023

63

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Dietary and drug treatment of primary hyperlipoproteinemia

8 August 2023

67

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

8 August 2023

69

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Prostacyclin overproduction in Bartter's syndrome

8 August 2023

71

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Evidence for a prostaglandin-independent defect in chloride reabsorption in the loop of henle as a proximal cause of Bartter's syndrome

8 August 2023

74

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Failure of methyldopa therapy in Bartter's syndrome

8 August 2023

75

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Experience with long-term therapy in congenital adrenal hyperplasia

8 August 2023

76

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Improved prognosis in congenital bypothyroidism treated before age three months

8 August 2023

77

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Effect of human growth hormone treatment for 1 to 7 years on growth of 100 children, with growth hormone deficiency, low birthweight, inherited smallness, Turner's syndrome, and other complaints

8 August 2023

78

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The gamma globulins. IV. Therapeutic uses of gamma globulin

8 August 2023

79

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Letter: Menkes' kinky hair disease treated with subcutaneous copper sulphate.

8 August 2023

83

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Copper infusion therapy in trichopoliodystrophy

8 August 2023

84

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Menkes' steely-hair (kinky-hair) disease.

8 August 2023

85

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

64Cu metabolism in Menkes and normal cultured skin fibroblasts

8 August 2023

86

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Copper metabolism in Menkes disease.

8 August 2023

87

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Increased copper metallothionein in Menkes cultured skin fibroblasts

8 August 2023

88

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Studies of the copper-binding proteins in Menkes and normal cultured skin fibroblast lysates

8 August 2023

89

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Zinc-binding factor in acrodermatitis enteropathica

8 August 2023

90

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Acrodermatitis enteropathica; review of the literature and report of a case successfully treated with diodoquin

8 August 2023

91

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Acrodermatitis enteropathica: Defective metabolism of unsaturated fatty acids

8 August 2023

93

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Letter: Acrodermatitis enteropathica: a lethal inherited human zinc-deficiency disorder

8 August 2023

94

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Zinc Therapy of Acrodermatitis Enteropathica

8 August 2023

95

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Genetic and biochemical analysis of human cobalamin mutants in cell culture

8 August 2023

100

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Cystathionase Deficiency: Evidence for Genetic Heterogeneity in Primary Cystathioninuria

8 August 2023

101

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Characterization of jack-bean α-D-mannosidase as a zinc metalloenzyme

8 August 2023

104

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Human liver alpha-D-mannosidase activity.

8 August 2023

105

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liver

8 August 2023

106

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Influence of dietary cadmium on the distribution of the essential metals copper, zinc and iron in tissues of the rat

8 August 2023

107

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Prenatal Therapy of a Patient with Vitamin-B12-Responsive Methylmalonic Acidemia

8 August 2023

110

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Danazol-induced augmentation of serum alpha 1-antitrypsin levels in individuals with marked deficiency of this antiprotease

8 August 2023

113

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor

8 August 2023

114

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The synthesis of enzymes concerned in bacteriochlorophyll formation in growing cultures of Rhodopseudomonas spheroides

8 August 2023

115

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

delta-aminolaevulate dehydratase from Rhodopseudomonas spheroides

8 August 2023

116

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Porphyrin biosynthesis, porphyria diseases, and induced enzymes in synthesis in chemical porphyria

8 August 2023

117

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Oscillations of hepatic delta-aminolevulinic acid synthetase produced in vivo by heme

8 August 2023

119

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Repression of the Overproduction of Porphyrin Precursors in Acute Intermittent Porphyria by Intravenous Infusions of Hematin

8 August 2023

120

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Postulated deficiency of hepatic heme and repair by hematin infusions in the "inducible" hepatic porphyrias

8 August 2023

121

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

FACTORS AFFECTING THE EXCRETION OF PORPHYRIN PRECURSORS BY PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA. I. THE EFFECT OF DIET

8 August 2023

123

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Immunologic reconstitution in severe combined immunodeficiency wihout bone-marrow chromosomal chimerism

8 August 2023

129

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Bone-marrow transplantation in a patient with the Wiskott-Aldrich syndrome

8 August 2023

130

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Complete Correction of the Wiskott-Aldrich Syndrome by Allogeneic Bone-Marrow Transplantation

8 August 2023

131

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Successful bone-marrow transplantation for infantile malignant osteopetrosis.

8 August 2023

135

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Bone Marrow Origin of Hepatic Macrophages (Kupffer Cells) in Humans

8 August 2023

136

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Correction of Severe Combined Immunodeficiency by Fetal Liver Cells

8 August 2023

138

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Implantation of a foetal thymus, restoring immunological competence in a patient with thymic aplasia (Digeorge's syndrome).

8 August 2023

139

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Orthotopic liver transplantation for Wilson's disease

8 August 2023

141

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Liver transplantation for advanced liver disease with alpha-1-antitrypsin deficiency

8 August 2023

146

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Survival and rehabilitation after orthotopic liver transplantation

8 August 2023

147

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Replacement therapy for inherited enzyme deficiency: Liver orthotopic transplantation in Niemann-Pick disease type A

8 August 2023

148

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Splenic transplantation in a case of Gaucher's disease.

8 August 2023

152

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Successful renal transplantation in 3 children with congenital nephrotic syndrome

8 August 2023

154

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Suppression of the shunt pathway in primary gout by azathioprine

8 August 2023

155

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney Transplantation

8 August 2023

160

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzyme replacement therapy by renal allotransplantation in Fabry's disease

8 August 2023

163

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease

8 August 2023

164

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzyme replacement therapy by fibroblast transplantation in a case of Hunter syndrome

8 August 2023

167

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome

8 August 2023

168

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Alpha-L-iduronidase Deficiency in a Cat: A Model of Mucopolysaccharidosis I

8 August 2023

174

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Mucopolysaccharidosis in a Cat with Arylsulfatase B Deficiency: A Model of Maroteaux-Lamy Syndrome

8 August 2023

175

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Pancreatic islet transplantation in the rat

8 August 2023

177

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Induction of an enzyme in genetically deficient rats after grafting of normal liver.

8 August 2023

179

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Genetics of HLA: the major human histocompatibility system

8 August 2023

180

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes

8 August 2023

184

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Collaborative Study of the Effects of Human Growth Hormone in Growth Hormone Deficiency. I. First Year of Therapy

8 August 2023

185

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Dose Dependence of Growth Response to Human Growth Hormone in Growth Hormone Deficiency

8 August 2023

186

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Experience with long-term therapy in congenital adrenal hyperplasia

8 August 2023

187

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Linear growth rate, bone maturation and growth hormone secretion in prepubertal children with congenital adrenal hyperplasia.

8 August 2023

188

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Screening for congenital hypothyroidism: Results of screening one million North American infants

8 August 2023

189

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The gamma globulins. IV. Therapeutic uses of gamma globulin

8 August 2023

194

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts

8 August 2023

196

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Correction of Abnormal Cerebroside Sulfate Metabolism in Cultured Metachromatic Leukodystrophy Fibroblasts

8 August 2023

198

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Correction of the Enzymic Defect in Cultured Fibroblasts from Patients with Fabry's Disease: Treatment with Purified α-Galactosidase from Ficin

8 August 2023

199

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase

8 August 2023

200

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Inborn errors of mucopolysaccharide metabolism

8 August 2023

201

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

8 August 2023

202

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

In vitro correction of deficient human fibroblasts by beta-glucuronidase from different human sources

8 August 2023

203

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Storage of mannose-containing material in cultured human mannosidosis cells and metabolic correction by pig kidney alpha-mannosidase

8 August 2023

205

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger

8 August 2023

207

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Metachromatic leukodystrophy. Treatment with arylsulfatase-A.

8 August 2023

209

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion

8 August 2023

212

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Effect of leukocyte transfusion in a child with type II mucopolysaccharidosis

8 August 2023

215

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

8 August 2023

221

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Replacement Therapy for Inherited Enzyme Deficiency

8 August 2023

223

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzyme therapy IV. A method for determining the in vivo fate of bovine beta-glucuronidase in beta-glucuronidase deficient mice

8 August 2023

225

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

8 August 2023

228

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The New England Journal of Medicine

8 August 2023

229

296

942

E Beutler

1977

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation

8 August 2023

230

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Heritable catabolic and anabolic disorders of lipid metabolism

8 August 2023

232

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Enzyme replacement in Tay-Sachs disease

8 August 2023

233

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

The Low-Density Lipoprotein Pathway and its Relation to Atherosclerosis

8 August 2023

236

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Neutral glycosphingolipids of serum lipoproteins in Fabry's disease

8 August 2023

238

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8303-5_5

Localization of neutral glycosphingolipids in human plasma

8 August 2023

239

1 reference

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