id stringlengths 9 17 | title stringlengths 12 274 | content sequence | display_content sequence | diagnosis sequence | genetics sequence | symptoms sequence | medication sequence | ethnicity sequence | biochemical sequence | neg_findings sequence |
|---|---|---|---|---|---|---|---|---|---|---|
fabry:35127921 | Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A.",
"Herein, we analyzed a four-generation Chinese family. The proband is a 57-year-old woman who was diagnosed with left ventricular hypertrophy and atrial fibrillation 7 years ago. Echocardiogr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disease",
"FD",
"FD"
] | [
"rare X-linked",
"novel mutation"
] | [
"left ventricular hypertrophy",
"atrial fibrillation",
"end-diastolic diameter of the interventricular septum of 19.9 mm",
"left ventricular end-diastolic diameter of 63.1 mm",
"moderate-to-severe mitral regurgitation",
"enlarged left heart and right atrium",
"decreased left ventricular systolic and dia... | [
"prescribed agalsidase-β for enzyme replacement therapy"
] | [
"Chinese"
] | [
"low level of enzyme activity"
] | null |
fabry:35083291 | Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy. | [
"Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only urinary mulberry bodies; she was treated with pharmacological cha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"disorder of the sphingolipid metabolism",
"Fabry nephropathy (FN)",
"FN",
"FN"
] | [
"X-linked",
"R301Q mutation"
] | [
"cardiac events",
"renal dysfunction"
] | [
"pharmacological chaperone therapy (PCT)",
"PCT",
"oral administration",
"PCT"
] | [
"Japanese"
] | [
"activity of α-galactosidase A was low"
] | [
"did not have renal dysfunction or proteinuria"
] |
fabry:34974891 | Complete Atrioventricular Block After Kidney Transplantation in a Patient With Fabry Disease Receiving Enzyme Replacement Therapy: A Case Report. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder that results from the deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) enzyme. Kidney transplantation is an option for treating end-stage renal disease in patients with FD. However, only a few cases of kidney transplantation hav... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"end-stage renal disease",
"FD",
"FD",
"end-stage renal disease",
"FD",
"end-stage renal disease",
"candidemia",
"FD"
] | [
"X-linked",
"mutation in the α-galactosidase A gene (p.Arg301Gln)"
] | [
"cardiomyopathy",
"markedly diffuse cardiac hypertrophy",
"post-transplantation course was uneventful",
"complete atrioventricular block",
"died",
"sepsis",
"cardiac morbidity",
"infection risks"
] | [
"Kidney transplantation",
"kidney transplantation",
"enzyme replacement therapy",
"peritoneal dialysis",
"enzyme replacement therapy with 1 mg/kg agalsidase-β every 2 weeks (Fabrazyme; Genzyme Co, Mass, USA)",
"successful deceased-donor kidney transplantation",
"transplantation",
"several months",
"... | null | [
"deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) enzyme",
"reduced leukocyte α-Gal A enzyme activity"
] | null |
fabry:34960158 | Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens. | [
"The urgent need to fight the COVID-19 pandemic has accelerated the development of vaccines against SARS-CoV-2 and approval processes. Initial analysis of two-dose regimens with mRNA vaccines reported up to 95% efficacy against the original strain of the SARS-CoV-2 virus. Challenges arose with the appearance of new... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The urgent need to fight the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n COVID-19 pandemic\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"COVID-19 pandemic",
"strain of the SARS-CoV-2 virus",
"Fabry disease",
"lysosomal disorder",
"chronic end-stage renal disease",
"advanced Fabry disease",
"mild COVID-19 infection",
"Fabry disease"
] | [
"X-linked inherited"
] | [
"reduced vaccination success rates",
"renal graft"
] | [
"vaccines against SARS-CoV-2",
"two-dose regimens with mRNA vaccines",
"solid organ transplant recipients",
"two-dose mRNA vaccination regimen",
"booster",
"renal graft",
"adjunctive immunosuppressive therapies",
"three vaccine doses",
"barrier protection measures"
] | null | [
"variable humoral vaccination-related immune responses against SARS-CoV-2"
] | [
"did not seroconvert after three shots of an mRNA vaccine",
"weak response to COVID-19 vaccination"
] |
fabry:34959703 | Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report. | [
"Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A>G, p.Asn215Ser) missense mutation usually results in a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"end-stage renal disease",
"Fabry"
] | [
"rare X-linked",
"mutations in the GLA gene",
"N215S (c.644A>G, p.Asn215Ser) missense mutation",
"N215S mutation"
] | [
"isolated cardiac involvement",
"cardiac involvement",
"left ventricular hypertrophy",
"ventricular arrhythmias"
] | [
"kidney transplantation",
"kidney-transplanted",
"oral pharmacologic chaperone migalastat"
] | null | [
"deficient α-galactosidase A activity"
] | null |
fabry:34808632 | Autopsy Findings of Heterozygous Fabry Disease with the Severe Phenotype: A Case Report. | [
"Fabry disease (FD) is an inherited X-linked lysosomal storage disorder, with hemizygous males being more severely affected than heterozygous females. Herein, we report a rare case of FD in a heterozygous female with a severe phenotype. The patient had obesity and hyperlipidemia and had her first cerebral infarctio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD"
] | [
"inherited X-linked",
"hemizygous males",
"heterozygous",
"heterozygous",
"presence of the classical phenotype"
] | [
"obesity",
"hyperlipidemia",
"cerebral infarction",
"morphological features of focal segmental glomerulosclerosis nephropathy",
"end-stage renal failure",
"died",
"cerebral hemorrhage",
"Mainz Severity Score Index",
"death",
"was 48/76",
"severe phenotype",
"vertebral arteries",
"cerebral he... | [
"Enzyme replacement therapy (ERT)",
"peritoneal dialysis",
"intensified treatment for metabolic factors",
"ERT"
] | null | [
"leukocyte alpha-galactosidase A activity was 2.3 Agal/U (normal: >20 Agal/U)"
] | null |
fabry:34790463 | Fabry Disease: A Atypical Presentation. | [
"Fabry Disease (FD) is a rare X-linked recessive disease caused by mutations in the GLA gene that lead to a decrease or lack of activity of the enzyme alpha galactosyl A. This lysosomal storage disorder results in progressive damage and dysfunction of several organs and, depending on the type of mutation and gender... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry Disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry Disease (FD)",
"lysosomal storage disorder",
"FD",
"multisystem disease",
"non-classical FD"
] | [
"rare X-linked recessive disease",
"mutations in the GLA gene",
"hereditary disease"
] | [
"progressive damage and dysfunction of several organs",
"previous neurological and psychiatric complaints",
"generalized tonic-clonic seizure"
] | [
"orotracheal intubation",
"for airway protection",
"transferred to an Intensive Care Unit (ICU)"
] | null | null | null |
fabry:34765393 | Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease. | [
"Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chronic visceral sub... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acid sphingomyelinase deficiency (ASMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"lysosomal storage disease (LSD)",
"chronic visceral subtype",
"chronic visceral subtype",
"ASMD",
"Gaucher disease",
"Fabry disease"
] | null | [
"organ manifestations",
"limited to the spleen, liver, and lungs",
"renal insufficiency"
] | null | null | [
"Acid sphingomyelinase deficiency (ASMD)",
"deficient acid sphingomyelinase",
"proteinuria"
] | null |
fabry:34729455 | Pericardial effusion in the course of Fabry disease cardiomyopathy: a case report. | [
"Fabry disease (FD) is an X-chromosome-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.",
"A 51-year-old Japanese woman with a previous diagnosis of FD presented with pericardial effusion. The exudative pericardial fluid contained globotria... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"disorder of glycosphingolipid metabolism",
"FD",
"FD cardiomyopathy"
] | [
"X-chromosome-linked inherited"
] | [
"pericardial effusion",
"Left ventricular hypertrophy"
] | null | [
"Japanese"
] | [
"deficient or absent lysosomal α-galactosidase A activity",
"increases in plasma levels of globotriaosylsphingosine and interleukin (IL)-18",
"the IL-6 level in the pericardial fluid was markedly higher than that in plasma",
"elevated IL-6 and IL-18 levels in pericardial fluid and plasma"
] | [
"despite regular administration of agalsidase alfa every 2 weeks over a 7-year period"
] |
fabry:34672003 | Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings. | [
"Angiokeratoma corporis diffusum (ACD) was long thought to be a specific dermal sign of Fabry disease (FD, X-linked alpha-galactosidase A [GLA] deficiency). However, other lysosomal storage diseases (LSDs) have also been identified as triggers of ACD. Generalized vasculopathy is an important pathogenetic factor in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum (ACD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Fabry disease (FD",
"lysosomal storage diseases (LSDs)",
"ACD",
"FD",
"FD",
"ACD",
"FD-like ACD",
"unexplained ACD"
] | [
"X-linked alpha-galactosidase A [GLA] deficiency",
"particular pathogenic variants of the GLA gene and other genes"
] | [
"Angiokeratoma corporis diffusum (ACD)",
"Generalized vasculopathy",
"acroparesthesia (AP)",
"severe AP",
"endothelial abnormality",
"otherwise unexplained vasculopathy",
"severe AP"
] | null | null | null | [
"no lysosomal involvement",
"no evidence of FD",
"Whole-exome sequencing was negative for FD and other LSDs",
"not due to FD or another LSD"
] |
fabry:34545322 | Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease. | [
"Fabry disease is an X linked disease caused by pathogenic variants in the GLA gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement therapy (ERT) has pr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry",
"Fabry disease",
"COVID-19",
"Fabry disease",
"COVID-19",
"diabetes mellitus",
"Fabry disease",
"secondary invasive bronchopulmonary aspergillosis",
"interstitial nephritis potentially secondary to COVID-19",
"late stage Fabry disease",
"multiple COVID-19 related comp... | [
"X linked disease",
"pathogenic variants in the GLA gene"
] | [
"cardiovascular and renal systems",
"severe manifestations of COVID-19",
"severe manifestations of COVID-19",
"cavitary lesion formation",
"scattered subendocardial fibrosis",
"long-standing renal disease",
"respiratory failure"
] | [
"heart or kidney transplants",
"Enzyme replacement therapy (ERT)",
"received cardiac or renal transplants",
"currently on dialysis",
"history of cardiac or renal transplants",
"history of kidney transplant",
"agalsidase beta ERT, then oral migalastat"
] | null | [
"rapid increase in cytokine levels",
"prothrombotic state",
"naturally elevated cytokine levels"
] | [
"despite the advanced management for the COVID-19 infection"
] |
fabry:34529243 | Fabry disease associated with multiple myeloma: a case report. | [
"Fabry disease (FD) is an X-linked genetic lysosomal disorder caused by alpha-galactosidase A (GLA) deficiency. Multiple myeloma (MM) predominately affects older adults, which ranks as the second commonest hematological malignancy. Their overlap has rarely been reported. We present a case of the coexistence of FD a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal disorder",
"Multiple myeloma (MM)",
"hematological malignancy",
"coexistence of FD and MM",
"MM",
"myeloma cast nephropathy",
"FD",
"FD",
"FD",
"MM",
"FD"
] | [
"X-linked genetic",
"germ line mutation in GLA"
] | [
"thoracic spine tumor with bone destruction",
"acute kidney injury",
"significantly improved the renal function",
"potential pathogenic relationship between FD and MM",
"multiple organ abnormalities"
] | [
"bortezomib and dexamethasone therapy"
] | null | [
"alpha-galactosidase A (GLA) deficiency"
] | null |
fabry:34521087 | A Case of a 49-Year-Old Man with Nonclassical Fabry Disease Diagnosed by Renal Biopsy. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the galactosidase A (GLA) gene that result in deficiency of α-GLA activity, leading to major organ failure and premature mortality. According to different disease courses, FD can be divided into classical and nonclassical pheno... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"nonclassical FD",
"FD",
"FD",
"nonclassical FD type"
] | [
"rare X-linked",
"mutations in the galactosidase A (GLA) gene",
"p.R301Q (c.902G>A [p.Arg301Gln])"
] | [
"major organ failure",
"premature mortality",
"complete right bundle branch block",
"abnormal Q waves in high lateral",
"dramatically elevated ST segment",
"stabilization of kidney disease",
"cardiac and renal symptoms"
] | [
"Angiotensin receptor blocker",
"traditional Chinese medicine"
] | null | [
"deficiency of α-GLA activity",
"proteinuria",
"decreased glomerular filtration rate"
] | [
"absent of characteristic symptoms",
"but not enzyme replacement therapy"
] |
fabry:34490767 | [Solitary angiokeratoma of the tongue]. | [
"A 41-year-old woman, who was referred with a reddish purple like lesion on the left side of the tongue, appeared to have an angiokeratoma after histopathological examination. Because of the benign character of this lesion and the absence of any complaints, no adjuvant treatment after excisional biopsy was indicate... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 41-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"angiokeratoma",
"systemic disease",
"Fabry disease",
"Fabry disease"
] | null | [
"reddish purple like lesion on the left side of the tongue",
"Angiokeratomas",
"solitary oral lesions",
"widespread skin involvement of angiokeratomas",
"oral lesions",
"Esthetically unpleasing or painful angiokeratomas"
] | [
"locally excised",
"laser- or cryotherapy"
] | null | null | [
"absence of any complaints",
"no adjuvant treatment after excisional biopsy"
] |
fabry:34479887 | Rare presentation of Fabry disease as 'burnt-out' hypertrophic cardiomyopathy. | [
"We herein report the case of a 53-year-old man who was historically diagnosed with hypertrophic cardiomyopathy (HCM) and was lost to follow-up, before presenting with end-stage heart failure. This was initially suspected as dilated cardiomyopathy and then 'burnt-out phase' of HCM but subsequently the underlying di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We herein report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 53-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"hypertrophic cardiomyopathy (HCM)",
"dilated cardiomyopathy",
"'burnt-out phase' of HCM",
"Fabry disease",
"Fabry disease",
"lysosomal-storage disease",
"Fabry disease",
"HCM",
"Untreated Fabry",
"burnt out' phase"
] | null | [
"end-stage heart failure",
"Cardiac involvement",
"left ventricular hypertrophy",
"end-stage heart failure",
"initial hypertrophy undergoes eccentric remodelling to a dilated, severely impaired left ventricle"
] | [
"Early treatment of",
"enzyme replacement therapy"
] | null | [
"reduced or absent activity of the alpha-galactosidase A enzyme"
] | [
"lost to follow-up"
] |
fabry:34466776 | Corrigendum to: Rapidly progressive aortic stenosis treated with transcatheter aortic valve implantation in a patient with Fabry disease: a case report. | [
"[This corrects the article DOI: 10.1093/ehjcr/ytab124.][This corrects the article DOI: 10.1093/ehjcr/ytab124.]."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[This corrects the article DOI: 10.1093/ehjcr/ytab124.][This corrects the article DOI: 10.1093/ehjcr/ytab124.].</div>"
] | null | null | null | null | null | null | null |
fabry:34432960 | Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy. | [
"Fabry disease (FD) is a lysosomal storage disorder with an X-linked genetic pattern. It is caused by the genetic mutations in the galactosidase alpha gene on the long arm of the X-chromosome, resulting in the deficiency of the alpha-galactosidase A enzyme activity. This leads to an accumulation of globotriaosylcer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD"
] | [
"X-linked genetic pattern",
"genetic mutations in the galactosidase alpha gene on the long arm of the X-chromosome"
] | [
"Left ventricular hypertrophy",
"involving the heart",
"cardiac disease progression",
"reversal or halting of the disease's progression",
"left ventricular hypertrophy"
] | [
"early initiation of enzyme replacement therapy"
] | null | [
"deficiency of the alpha-galactosidase A enzyme activity"
] | null |
End of preview. Expand
in Data Studio
FindZebra case reports
A collection of 3344 case reports fetched from the PubMed API for the Fabry, Gaucher and Familial amyloid cardiomyopathy (FAC) diseases.
Articles are labelled using a text segmentation model described in "FindZebra online search delving into rare disease case reports using natural language processing".
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