Amino Acid Metabolism, Inborn Errors; Amino Acidopathies, Congenital

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amino acid metabolism, inborn errors; metabolism; metabolism, inborn errors

	Diseases	Rating	Bibliogr.
1	Amino Acid Metabolism, Inborn Errors	100	+ +
2	Metabolism, Inborn Errors	43	+ +
3	Homocystinuria	42	+ +
4	Maple Syrup Urine Disease	34	+ +
5	Brain Diseases, Metabolic, Inborn	12	+ +
6	Metabolic Diseases	11	+ +
7	Steroid Metabolism, Inborn Errors	10	+ +
8	Myocardial Stunning	8	+ +
9	Lipid Metabolism Disorders	8	+ +
10	Lipid Metabolism, Inborn Errors	6	+ +
11	Carbohydrate Metabolism, Inborn Errors	6	+ +
12	Hypertrophy, Right Ventricular	5	+ +
13	Purine-Pyrimidine Metabolism, Inborn Errors	5	+ +
14	Metal Metabolism, Inborn Errors	4	+ +
15	Renal Aminoacidurias	3	+ +
16	Hartnup Disease	3	+ +
17	Ornithine Carbamoyltransferase Deficiency Disease	3	+ +
18	Hyperammonemia	3	+ +
19	Refractive Errors	3	+ +
20	Hyperargininemia	3	+ +
21	Phenylketonurias	2	+ +
22	Genetic Predisposition to Disease	2	+ +
23	Cystinuria	2	+ +
24	Citrullinemia	2	+ +
25	Lesch-Nyhan Syndrome	2	+ +
26	Acidosis	2	+ +
27	Hypophosphatasia	2	+ +
28	Psychomotor Disorders	2	+ +
29	Syndrome	2	+ +
30	Fructose Metabolism, Inborn Errors	2	+ +
31	Brain Diseases, Metabolic	2	+ +
32	Argininosuccinic Aciduria	1	+ +
33	Fructose Intolerance	1	+ +
34	Ketosis	1	+ +
35	Hyperglycinemia, Nonketotic	1	+ +
36	Genetic Diseases, Inborn	1	+ +
37	Smith-Lemli-Opitz Syndrome	1	+ +
38	Pyruvate Metabolism, Inborn Errors	1	+ +
39	Intellectual Disability	1	+ +
40	Tyrosinemias	1	+ +
41	Fabry Disease	1	+ +
42	Failure to Thrive	1	+ +
43	Deficiency Diseases	1	+ +
44	Glucagonoma	1	+ +
45	Seizures	1	+ +
46	Muscle Hypotonia	1	+ +
47	Starvation	1	+ +
48	Reye Syndrome	1	+ +
49	Holocarboxylase Synthetase Deficiency	1	+ +
50	Diseases in Twins	1	+ +
51	Thrombasthenia	1	+ +
52	Ochronosis	1	+ +
53	Calcium Metabolism Disorders	1	+ +
54	Mitochondrial Diseases	1	+ +
55	Epilepsy	1	+ +
56	Anemia, Megaloblastic	1	+ +
57	Renal Tubular Transport, Inborn Errors	1	+ +
58	Hyperhomocysteinemia	1	+ +
59	Agraphia	1	+ +
60	Nervous System Diseases	1	+ +
61	Mucopolysaccharidosis I	1	+ +
62	Afibrinogenemia	1	+ +
63	Disease Progression	1	+ +
64	Hypobetalipoproteinemias	1	+ +
65	Body Weight	1	+ +
66	Developmental Disabilities	1	+ +
67	Ichthyosis	1	+ +
68	Liver Diseases	1	+ +
69	Hypoglycemia	1	+ +
70	Chronic Disease	1	+ +

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