Rare diseases

Congenital pouch colon with rectal atresia: a case report

Treatment Outcome / Risk assessment / Rare diseases / Case Report / Humans / Female / Pediatric Surgery / Follow-up studies / Pediatric / Newborn Infant / Risk Assessment / Colon / X ray Computed Tomography / Colectomy / Female / Pediatric Surgery / Follow-up studies / Pediatric / Newborn Infant / Risk Assessment / Colon / X ray Computed Tomography / Colectomy

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Rare diseases / Adolescent / Biopsy / Humans / Child / Liver / Female / Male / Young Adult / Aged / Middle Aged / Adult / New England Journalof Medicine / Alanine Transaminase / Liver / Female / Male / Young Adult / Aged / Middle Aged / Adult / New England Journalof Medicine / Alanine Transaminase

[Esthesioneuroblastoma]

Radiotherapy / Rare diseases / Humans / Female / Male / Nasal cavity / Prognosis / Antineoplastic Agents / Nasal cavity / Prognosis / Antineoplastic Agents

Alpha-1 antitrypsin deficiency, SZ phenotype: a rare type of a rare disease. Case report

Asthma / Rare diseases / Humans / Smoking / Female / Risk factors / Phenotype / Middle Aged / Prognosis / Chronic obstructive pulmonary disease / Combination drug therapy / Risk Factors / Sensitivity and Specificity / Genetic Markers / Glucocorticoids / Predictive value of tests / Alpha-1 Antitrypsin / Heart Diseases / Risk factors / Phenotype / Middle Aged / Prognosis / Chronic obstructive pulmonary disease / Combination drug therapy / Risk Factors / Sensitivity and Specificity / Genetic Markers / Glucocorticoids / Predictive value of tests / Alpha-1 Antitrypsin / Heart Diseases

Deficiencia de Acil-CoA deshidrogenasa de Cadena Corta

Genetics / Rare diseases

Factor V deficiency: a concise review

Rare diseases / Iran / Italy / Haemophilia / Pregnancy / Humans / Child / Mutation / Blood Coagulation Factors / Female / Plasma / Blood Coagulation / Registries / Clinical Sciences / Newborn Infant / Middle Aged / Recombinant Proteins / Hemorrhage / Coagulants / Severity of Illness Index / Humans / Child / Mutation / Blood Coagulation Factors / Female / Plasma / Blood Coagulation / Registries / Clinical Sciences / Newborn Infant / Middle Aged / Recombinant Proteins / Hemorrhage / Coagulants / Severity of Illness Index

Is frontotemporal lobar degeneration a rare disorder? Evidence from a preliminary study in Brescia county, Italy

Cognitive Science / Rare diseases / Italy / Humans / Female / Male / Clinical Sciences / Aged / Middle Aged / Neurosciences / Male / Clinical Sciences / Aged / Middle Aged / Neurosciences

Transnasal endoscopic resection of symptomatic ecchordosis physaliphora

Magnetic Resonance Imaging / Treatment Outcome / Risk assessment / Rare diseases / Humans / Female / Follow-up studies / Clinical Sciences / Middle Aged / Notochord / Adult / Chordoma / Risk Assessment / X ray Computed Tomography / Nose / Female / Follow-up studies / Clinical Sciences / Middle Aged / Notochord / Adult / Chordoma / Risk Assessment / X ray Computed Tomography / Nose

SITUACIÓN DE LOS AFECTADOS CON ENFERMEDADES RARAS EN COLOMBIA Una población vulnerable y minoritaria que requiere abordaje con enfoque diferencial.pdf

Rare diseases / Minority Rights / Orphan Drugs / Enfermedades raras

Mapas conceptuales para el diagnóstico de enfermedades raras en atención primaria

Primary Care / Evidence Based Medicine / Family Medicine / Concept Map / Public Health / Rare diseases / Paediatrics / Humans / Mental processes / Clinical Sciences / Early Detection / Enfermedades raras / Epidemiología Clínica / Metáfora / Pediatria / Atencion Primaria De La Salud / Diagnóstico / Rare diseases / Paediatrics / Humans / Mental processes / Clinical Sciences / Early Detection / Enfermedades raras / Epidemiología Clínica / Metáfora / Pediatria / Atencion Primaria De La Salud / Diagnóstico

Congenital pouch colon with rectal atresia: a case report

Treatment Outcome / Risk assessment / Rare diseases / Case Report / Humans / Female / Pediatric Surgery / Follow-up studies / Pediatric / Newborn Infant / Risk Assessment / Colon / X ray Computed Tomography / Colectomy / Female / Pediatric Surgery / Follow-up studies / Pediatric / Newborn Infant / Risk Assessment / Colon / X ray Computed Tomography / Colectomy

Laparoscopic Repair of an Intrapericardial Diaphragmatic Hernia

Treatment Outcome / Risk assessment / Rare diseases / Herniorrhaphy / Humans / Male / Follow-up studies / Clinical Sciences / Adult / Congenital Diaphragmatic Hernia / Risk Assessment / Pericardium / Abdominal Pain / Laparoscopy / SECONDARY PREVENTION / Severity of Illness Index / Male / Follow-up studies / Clinical Sciences / Adult / Congenital Diaphragmatic Hernia / Risk Assessment / Pericardium / Abdominal Pain / Laparoscopy / SECONDARY PREVENTION / Severity of Illness Index

Laparoscopic Repair of an Intrapericardial Diaphragmatic Hernia

Treatment Outcome / Risk assessment / Rare diseases / Herniorrhaphy / Humans / Male / Follow-up studies / Clinical Sciences / Adult / Congenital Diaphragmatic Hernia / Risk Assessment / Pericardium / Abdominal Pain / Laparoscopy / SECONDARY PREVENTION / Severity of Illness Index / Male / Follow-up studies / Clinical Sciences / Adult / Congenital Diaphragmatic Hernia / Risk Assessment / Pericardium / Abdominal Pain / Laparoscopy / SECONDARY PREVENTION / Severity of Illness Index

Aromatase Deficiency, a Rare Syndrome: Case Report

Rare diseases / Humans / Female / Inborn errors of metabolism / Male / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis

Combined FV and FVIII deficiency

Membrane Proteins / Rare diseases / Haemophilia / Pregnancy / Humans / Mutation / Female / Male / Plasma / Blood Coagulation / Clinical Sciences / Hemophilia A / factor VIII / Hemorrhage / General Population / Coagulants / Intracellular Transport / DNA mutational analysis / Mutation / Female / Male / Plasma / Blood Coagulation / Clinical Sciences / Hemophilia A / factor VIII / Hemorrhage / General Population / Coagulants / Intracellular Transport / DNA mutational analysis

Congenital pouch colon with rectal atresia: a case report

Treatment Outcome / Risk assessment / Rare diseases / Case Report / Humans / Female / Pediatric Surgery / Follow-up studies / Pediatric / Newborn Infant / Risk Assessment / Colon / X ray Computed Tomography / Colectomy / Female / Pediatric Surgery / Follow-up studies / Pediatric / Newborn Infant / Risk Assessment / Colon / X ray Computed Tomography / Colectomy

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