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Life Sciences → Biochemistry, Genetics and Molecular Biology → Clinical Biochemistry

Metabolism and Genetic Disorders

This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.

196.6K works worldwide2.1M citations
Metabolic DisordersBiochemical GeneticsNewborn ScreeningMitochondrial FunctionCarnitinePhenylketonuriaTandem Mass SpectrometryInborn Errors of MetabolismTyrosine HydroxylaseTetrahydrobiopterin

Journals publishing in this area

1Journal of Biological Chemistry cover
Journal of Biological Chemistry
ISSN 0021-92585,570 articles in this topic
777h-index
2Pediatric Research cover
Pediatric Research
ISSN 0031-39983,698 articles in this topic
222h-index
3
Clinical Chemistry
ISSN 0009-91472,162 articles in this topic
322h-index
4Biochemical and Biophysical Research Communications cover
Biochemical and Biophysical Research Communications
ISSN 0006-291X2,100 articles in this topic
392h-index
5Experimental Biology and Medicine cover
Experimental Biology and Medicine
ISSN 1535-36992,084 articles in this topic
240h-index
6
Neurology
ISSN 0028-38781,964 articles in this topic
520h-index
7The Journal of Pediatrics cover
The Journal of Pediatrics
ISSN 0022-34761,928 articles in this topic
330h-index
8Biochemistry cover
Biochemistry
ISSN 0006-29601,923 articles in this topic
441h-index
9Clinica Chimica Acta cover
Clinica Chimica Acta
ISSN 0009-89811,893 articles in this topic
242h-index
10
Biochemical Journal
ISSN 0264-60211,825 articles in this topic
401h-index
11Archives of Biochemistry and Biophysics cover
Archives of Biochemistry and Biophysics
ISSN 0003-98611,766 articles in this topic
294h-index
12
PEDIATRICS
ISSN 0031-40051,650 articles in this topic
514h-index
13Journal of Nutrition cover
Journal of Nutrition
ISSN 0022-31661,642 articles in this topic
371h-index
14
Biochemical Journal
ISSN 0306-32831,637 articles in this topic
272h-index
15New England Journal of Medicine cover
New England Journal of Medicine
ISSN 0028-47931,451 articles in this topic
1,494h-index
16
Biochemical Society Transactions
ISSN 0300-51271,427 articles in this topic
215h-index
17Transplantation cover
Transplantation
ISSN 0041-13371,389 articles in this topic
278h-index
18
Archives of Disease in Childhood
ISSN 0003-98881,336 articles in this topic
259h-index
19European Journal of Biochemistry cover
European Journal of Biochemistry
ISSN 0014-29561,330 articles in this topic
309h-index
20Journal of Neurochemistry cover
Journal of Neurochemistry
ISSN 0022-30421,311 articles in this topic
347h-index
21FEBS Letters cover
FEBS Letters
ISSN 0014-57931,273 articles in this topic
391h-index
22Analytical Biochemistry cover
Analytical Biochemistry
ISSN 0003-26971,199 articles in this topic
407h-index
23Epilepsia cover
Epilepsia
ISSN 0013-95801,190 articles in this topic
284h-index
24Biochemical Pharmacology cover
Biochemical Pharmacology
ISSN 0006-29521,148 articles in this topic
290h-index
25Acta Paediatrica cover
Acta Paediatrica
ISSN 0803-52531,105 articles in this topic
194h-index
26
Journal of Pharmacology and Experimental Therapeutics
ISSN 0022-35651,076 articles in this topic
324h-index
27American Journal of Clinical Nutrition cover
American Journal of Clinical Nutrition
ISSN 0002-91651,019 articles in this topic
494h-index
28Nephrology Dialysis Transplantation cover
Nephrology Dialysis Transplantation
ISSN 0931-0509890 articles in this topic
231h-index
29Journal of Clinical Investigation cover
Journal of Clinical Investigation
ISSN 0021-9738843 articles in this topic
708h-index
30Journal of Hepatology cover
Journal of Hepatology
ISSN 0168-8278811 articles in this topic
376h-index
31Cellular and Molecular Life Sciences cover
Cellular and Molecular Life Sciences
ISSN 1420-682X776 articles in this topic
328h-index
32
American Journal of Physiology-Legacy Content
ISSN 0002-9513755 articles in this topic
238h-index
33Biochimica et Biophysica Acta (BBA) - Bioenergetics cover
Biochimica et Biophysica Acta (BBA) - Bioenergetics
ISSN 0005-2728717 articles in this topic
255h-index
34
Hepatology
ISSN 0270-9139710 articles in this topic
478h-index
35Biochimica et Biophysica Acta (BBA) - General Subjects cover
Biochimica et Biophysica Acta (BBA) - General Subjects
ISSN 0304-4165696 articles in this topic
241h-index
36
Journal of the American Society of Nephrology
ISSN 1046-6673662 articles in this topic
369h-index
37Archives of Pediatrics and Adolescent Medicine cover
Archives of Pediatrics and Adolescent Medicine
ISSN 1072-4710638 articles in this topic
252h-index
38
BMJ
ISSN 0007-1447626 articles in this topic
242h-index
39Archives of Internal Medicine cover
Archives of Internal Medicine
ISSN 0003-9926626 articles in this topic
458h-index
40Journal of Lipid Research cover
Journal of Lipid Research
ISSN 0022-2275625 articles in this topic
322h-index
41Metabolism cover
Metabolism
ISSN 0026-0495612 articles in this topic
236h-index
42Annals of Neurology cover
Annals of Neurology
ISSN 0364-5134609 articles in this topic
435h-index
43Developmental Medicine & Child Neurology cover
Developmental Medicine & Child Neurology
ISSN 0012-1622600 articles in this topic
225h-index
44
American Journal of Physiology-Endocrinology and Metabolism
ISSN 0193-1849586 articles in this topic
278h-index
45The American Journal of the Medical Sciences cover
The American Journal of the Medical Sciences
ISSN 0002-9629573 articles in this topic
234h-index
46Biochimica et Biophysica Acta (BBA) - Biomembranes cover
Biochimica et Biophysica Acta (BBA) - Biomembranes
ISSN 0005-2736573 articles in this topic
301h-index
47
Pflügers Archiv - European Journal of Physiology
ISSN 0031-6768468 articles in this topic
216h-index
48Archives of Neurology cover
Archives of Neurology
ISSN 0003-9942453 articles in this topic
351h-index
49Human Molecular Genetics cover
Human Molecular Genetics
ISSN 0964-6906416 articles in this topic
356h-index
50The American Journal of Human Genetics cover
The American Journal of Human Genetics
ISSN 0002-9297387 articles in this topic
387h-index