Acidemia Argininosuccínica
Acidemia Glutárica Tipo I
Acidemia Glutárica Tipo II
Acidemia isovalérica
Acidemia metilmalónica
Acidemia metilmalónica y homocistinuria combinadas
Acidemia propiónica
Aciduria 3-metilglutacónica
Aciduria combinada malónica y metilmalónica
Acil-Coenzima A deshidrogenasa de cadena muy larga
Agammaglobulinemia ligada al X
Ataxia-Telangiectasia ATM
Atrofia giratoria de la coroides y la retina
Citrulinemia tipo I
Complejo de esclerosis tuberosa
Deficiencia de 2,4-dienoil-CoA reductasa
Deficiencia de 2-Metil-3-Hidroxibutiril-CoA Deshidrogenasa
Deficiencia de 2-Metilbutiril-CoA Deshidrogenasa
Deficiencia de 3-cetoacil-CoA tiolasa de cadena media
Deficiencia de 3-hidroxi-3-metilglutaril-CoA liasa
Deficiencia de 3-hidroxiacil-CoA deshidrogenasa
Deficiencia de 3-Hidroxiacil-CoA deshidrogenasa de cadena larga
Deficiencia de 3-Metilcrotonil-CoA Carboxilasa
Deficiencia de Acil-CoA deshidrogenasa de cadena corta
Deficiencia de Acil-Coenzima A Deshidrogenasa de Cadena Media
Deficiencia de arginasa
Deficiencia de Beta-Cetotiolasa
Deficiencia de carbamoil fosfato sintetasa I
Deficiencia de carnitina palmitoiltransferasa 1A
Deficiencia de carnitina palmitoiltransferasa II
Deficiencia de carnitina primaria sistémica
Deficiencia de carnitina-acilcarnitina translocasa
Deficiencia de citrina
Deficiencia de glucosa-6-fosfato deshidrogenasa
Deficiencia de Isobutiril-CoA Deshidrogenasa
Deficiencia de Malonil-CoA Decarboxilasa
Deficiencia de N-acetilglutamato sintasa
Deficiencia de ornitina transcarbamilasa
Deficiencia de proteínas trifuncionales
Deficiencia de tetrahidrobiopterina
Deficiencia múltiple de carboxilasa
Encefalopatía etilmalónica
Enfermedad de Fabry
Enfermedad de Krabbe
Enfermedad de la orina de jarabe de arce
Enfermedad de Menkes
Enfermedad de Niemann-Pick
Enfermedad de Wilson
Enfermedad del Almacenamiento de Glucógeno Tipo Ia
Enfermedad del Almacenamiento de Glucógeno Tipo Ib
Enfermedad del Almacenamiento de Glucógeno Tipo II(Pompe
Enfermedad linfoproliferativa ligada al X
Fenilcetonuria
Fibrosis quística
Galactosemia
Hipercolesterolemia familiar
Hiperglicinemia no cetósica
Hipermetioninemia
Hiperornitinemia-Hiperamonemia-Homocitrulinuria
Hipertermia maligna
Hipertrigliceridemia
Hipervalinemia
Hipoplasia capilar cartilaginosa
Histidinemia
Homocistinuria
Inmunodeficiencia combinada grave
Intolerancia hereditaria a la fructosa
Linfohistiocitosis Hemofagocítica Familiar
Mucopolisacaridosis tipo I
Mucopolisacaridosis tipo II
Mucopolisacaridosis tipo IV
Mucopolisacaridosis tipo VI
Neutropenia relacionada con ELANE ELANE
Pérdida de audición y sordera no sindrómica
Síndrome de Chediak-Higashi LYST
Síndrome de Dravet (Epilepsia mioclónica grave de
Síndrome de Griscelli Tipo 2
Síndrome de Hermansky-Pudlak tipo 2
Síndrome de Hiper IgE Autosómico Dominante
Síndrome de hiper IgM
Síndrome de Rotura de Nijmegen
Síndrome de Wiskott-Aldrich WAS XR
Síndromes de deficiencia de creatina
Sitosterolemia
Tirosinemia tipo I
Tirosinemia tipo II
Tirosinemia tipo III
English version
Argininosuccinic Acidemia
Glutaric Acidemia Type I
Glutaric Acidemia Type II
Isovaleric Acidemia
Methylmalonic Acidemia
Combined Methylmalonic Acidemia and Homocystinuria
Propionic Acidemia
3-Methylglutaconic Aciduria
Combined Malonic and Methylmalonic Aciduria
Very Long-Chain Acyl-Coenzyme A Dehydrogenase
X-linked Agammaglobulinemia
Ataxia-Telangiectasia ATM
Gyrate Atrophy of Choroid and Retina
Citrullinemia Type I
Tuberous Sclerosis Complex
2,4-Dienoyl-CoA Reductase Deficiency
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Arginase Deficiency
Beta-Ketothiolase Deficiency
Carbamoyl Phosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase 1A Deficiency
Carnitine Palmitoyltransferase II Deficiency
Systemic Primary Carnitine Deficiency
Carnitine-acylcarnitine Translocase Deficiency
Citrin Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency
Isobutyryl-CoA Dehydrogenase Deficiency
Malonyl-CoA Decarboxylase Deficiency
N-Acetylglutamate Synthase Deficiency
Ornithine Transcarbamylase Deficiency
Trifunctional Protein Deficiency
Tetrahydrobiopterin Deficiency
Multiple Carboxylase Deficiency
Ethylmalonic Encephalopathy
Fabry Disease
Krabbe Disease
Maple Syrup Urine Disease
Menkes Disease
Niemann-Pick Disease
Wilson Disease
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type II(Pompe
X-linked Lymphoproliferative Disease
Phenylketonuria
Cystic Fibrosis
Galactosemia
Familial Hypercholesterolemia
Nonketotic Hyperglycinemia
Hypermethioninemia
Hyperornithinemia-Hyperammonemia-Homocitrullinuria
Malignant Hyperthermia
Hypertriglyceridaemia
Hypervalinemia
Cartilage Hair Hypoplasia
Histidinemia
Homocystinuria
Severe Combined Immunodificiency
Hereditary Fructose Intolerance
Familial Hemophagocytic Lymphohistiocytosis
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IV
Mucopolysaccharidosis Type VI
ELANE-Related Neutropenia ELANE
Nonsyndromic Hearing Loss and Deafness
Chediak-Higashi Syndrome LYST
Dravet Syndrome(Severe Myoclonic Epilepsy of
Griscelli Syndrome Type 2
Hermansky-Pudlak Syndrome Type 2
Autosomal Dominant Hyper IgE Syndrome
Hyper IgM Syndrome
Nijmegen Breakage Syndrome
Wiskott-Aldrich Syndrome WAS XR
Creatine Deficiency Syndromes
Sitosterolemia
Tyrosinemia Type I
Tyrosinemia Type II
Tyrosinemia Type III
| Argininosuccinic Acidemia |
| Glutaric Acidemia Type I |
| Glutaric Acidemia Type II |
| Isovaleric Acidemia |
| Methylmalonic Acidemia |
| Combined Methylmalonic Acidemia and Homocystinuria |
| Propionic Acidemia |
| 3-Methylglutaconic Aciduria |
| Combined Malonic and Methylmalonic Aciduria |
| Very Long-Chain Acyl-Coenzyme A Dehydrogenase |
| X-linked Agammaglobulinemia |
| Ataxia-Telangiectasia ATM |
| Gyrate Atrophy of Choroid and Retina |
| Citrullinemia Type I |
| Tuberous Sclerosis Complex |
| 2,4-Dienoyl-CoA Reductase Deficiency |
| 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
| Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency |
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
| Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
| 3-Methylcrotonyl-CoA Carboxylase Deficiency |
| Short-Chain Acyl-CoA Dehydrogenase Deficiency |
| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
| Arginase Deficiency |
| Beta-Ketothiolase Deficiency |
| Carbamoyl Phosphate Synthetase I Deficiency |
| Carnitine Palmitoyltransferase 1A Deficiency |
| Carnitine Palmitoyltransferase II Deficiency |
| Systemic Primary Carnitine Deficiency |
| Carnitine-acylcarnitine Translocase Deficiency |
| Citrin Deficiency |
| Glucose-6-Phosphate Dehydrogenase Deficiency |
| Isobutyryl-CoA Dehydrogenase Deficiency |
| Malonyl-CoA Decarboxylase Deficiency |
| N-Acetylglutamate Synthase Deficiency |
| Ornithine Transcarbamylase Deficiency |
| Trifunctional Protein Deficiency |
| Tetrahydrobiopterin Deficiency |
| Multiple Carboxylase Deficiency |
| Ethylmalonic Encephalopathy |
| Fabry Disease |
| Krabbe Disease |
| Maple Syrup Urine Disease |
| Menkes Disease |
| Niemann-Pick Disease |
| Wilson Disease |
| Glycogen Storage Disease Type Ia |
| Glycogen Storage Disease Type Ib |
| Glycogen Storage Disease Type II(Pompe |
| X-linked Lymphoproliferative Disease |
| Phenylketonuria |
| Cystic Fibrosis |
| Galactosemia |
| Familial Hypercholesterolemia |
| Nonketotic Hyperglycinemia |
| Hypermethioninemia |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria |
| Malignant Hyperthermia |
| Hypertriglyceridaemia |
| Hypervalinemia |
| Cartilage Hair Hypoplasia |
| Histidinemia |
| Homocystinuria |
| Severe Combined Immunodificiency |
| Hereditary Fructose Intolerance |
| Familial Hemophagocytic Lymphohistiocytosis |
| Mucopolysaccharidosis Type I |
| Mucopolysaccharidosis Type II |
| Mucopolysaccharidosis Type IV |
| Mucopolysaccharidosis Type VI |
| ELANE-Related Neutropenia ELANE |
| Nonsyndromic Hearing Loss and Deafness |
| Chediak-Higashi Syndrome LYST |
| Dravet Syndrome(Severe Myoclonic Epilepsy of |
| Griscelli Syndrome Type 2 |
| Hermansky-Pudlak Syndrome Type 2 |
| Autosomal Dominant Hyper IgE Syndrome |
| Hyper IgM Syndrome |
| Nijmegen Breakage Syndrome |
| Wiskott-Aldrich Syndrome WAS XR |
| Creatine Deficiency Syndromes |
| Sitosterolemia |
| Tyrosinemia Type I |
| Tyrosinemia Type II |
| Tyrosinemia Type III |