Metabolism, Inborn Errors; Inborn Errors of Metabolism

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	Diseases	Rating	Bibliogr.
1	Metabolism, Inborn Errors	100	+ +
2	Amino Acid Metabolism, Inborn Errors	47	+ +
3	Lipid Metabolism, Inborn Errors	21	+ +
4	Carbohydrate Metabolism, Inborn Errors	20	+ +
5	Purine-Pyrimidine Metabolism, Inborn Errors	18	+ +
6	Metal Metabolism, Inborn Errors	15	+ +
7	Homocystinuria	11	+ +
8	Refractive Errors	11	+ +
9	Steroid Metabolism, Inborn Errors	11	+ +
10	Brain Diseases, Metabolic, Inborn	9	+ +
11	Ornithine Carbamoyltransferase Deficiency Disease	8	+ +
12	Hyperammonemia	8	+ +
13	Metabolic Diseases	7	+ +
14	Fructose Metabolism, Inborn Errors	6	+ +
15	Hypophosphatasia	6	+ +
16	Lesch-Nyhan Syndrome	6	+ +
17	Fructose Intolerance	6	+ +
18	Psychomotor Disorders	6	+ +
19	Hyperargininemia	6	+ +
20	Smith-Lemli-Opitz Syndrome	5	+ +
21	Pyruvate Metabolism, Inborn Errors	5	+ +
22	Hyperglycinemia, Nonketotic	5	+ +
23	Ketosis	5	+ +
24	Acidosis	5	+ +
25	Reye Syndrome	4	+ +
26	Failure to Thrive	4	+ +
27	Fabry Disease	4	+ +
28	Muscle Hypotonia	4	+ +
29	Calcium Metabolism Disorders	4	+ +
30	Genetic Diseases, Inborn	4	+ +
31	Renal Aminoacidurias	4	+ +
32	Phenylketonurias	4	+ +
33	Anemia, Megaloblastic	4	+ +
34	Brain Diseases, Metabolic	4	+ +
35	Tyrosinemias	4	+ +
36	Hyperhomocysteinemia	4	+ +
37	Maple Syrup Urine Disease	4	+ +
38	Citrullinemia	4	+ +
39	Agraphia	4	+ +
40	Mucopolysaccharidosis I	3	+ +
41	Holocarboxylase Synthetase Deficiency	3	+ +
42	Argininosuccinic Aciduria	3	+ +
43	Diseases in Twins	3	+ +
44	Intellectual Disability	3	+ +
45	Seizures	3	+ +
46	Articulation Disorders	3	+ +
47	Dyslexia	3	+ +
48	Ochronosis	3	+ +
49	Basal Ganglia Diseases	3	+ +
50	Porphyria, Erythropoietic	3	+ +
51	Sudden Infant Death	3	+ +
52	Epilepsy	3	+ +
53	Syndrome	3	+ +
54	Aphasia	3	+ +
55	Dyslexia, Acquired	3	+ +
56	Multiple Acyl Coenzyme A Dehydrogenase Deficiency	2	+ +
57	Deficiency Diseases	2	+ +
58	Glucose Metabolism Disorders	2	+ +
59	Genetic Predisposition to Disease	2	+ +
60	Mitochondrial Diseases	2	+ +
61	Movement Disorders	2	+ +
62	Developmental Disabilities	2	+ +
63	Renal Tubular Transport, Inborn Errors	2	+ +
64	Anomia	2	+ +
65	Menkes Kinky Hair Syndrome	2	+ +
66	Crigler-Najjar Syndrome	2	+ +
67	Aphasia, Wernicke	2	+ +
68	Nervous System Diseases	2	+ +
69	Ichthyosis	2	+ +
70	Hypoglycemia	2	+ +
71	Hyperopia	2	+ +
72	Disease Progression	2	+ +
73	Growth Disorders	2	+ +
74	Deafness	2	+ +
75	Myopia	2	+ +
76	Liver Diseases	2	+ +
77	Cholestasis	1	+ +
78	Cardiomyopathies	1	+ +
79	Chronic Disease	1	+ +
80	Phosphorus Metabolism Disorders	1	+ +
81	Aphasia, Broca	1	+ +
82	Hepatolenticular Degeneration	1	+ +
83	Brain Damage, Chronic	1	+ +
84	Apraxias	1	+ +
85	Abnormalities, Multiple	1	+ +
86	Nondisjunction, Genetic	1	+ +
87	Drug Overdose	1	+ +
88	Perceptual Disorders	1	+ +
89	Recurrence	1	+ +
90	Lipid Metabolism Disorders	1	+ +
91	Brain Diseases	1	+ +
92	Hyperlipidemias	1	+ +
93	Diabetes Mellitus	1	+ +
94	Language Disorders	1	+ +
95	Astigmatism	1	+ +
96	Cerebral Infarction	1	+ +
97	Iron Metabolism Disorders	1	+ +
98	Anisometropia	1	+ +
99	Hyperglycemia	1	+ +
100	Hyperlipidemia, Familial Combined	1	+ +
101	Speech Disorders	1	+ +
102	Bone Diseases, Metabolic	1	+ +
103	Anemia, Macrocytic	1	+ +
104	Calcinosis	1	+ +
105	Galactosemias	1	+ +
106	Amblyopia	1	+ +
107	Hypoxia-Ischemia, Brain	1	+ +
108	Coma	1	+ +
109	Diabetes Mellitus, Type 2	1	+ +
110	Muscular Diseases	1	+ +

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