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1. Full Text Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management
by Balwani, Manisha
Molecular Genetics and Metabolism, ISSN 1096-7192, 2019
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the... 
Porphyria | Genetics | Photodermatosis | Metabolic | Heme-biosynthesis
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2. What hematologists need to know about acute hepatic porphyria
by Balwani, Manisha
Clinical Advances in Hematology and Oncology, ISSN 1543-0790, 11/2016, Volume 14, Issue 11, pp. 858 - 861
Diagnostic Tests, Routine | Porphyrias, Hepatic - diagnosis | Prognosis | Humans | Porphyrias, Hepatic - epidemiology | Porphyrias, Hepatic - etiology | Porphyrias, Hepatic - therapy | Treatment Outcome | Porphobilinogen Synthase - deficiency | Research
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3. Full Text Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial
by Cox, Timothy M, Prof and Drelichman, Guillermo, MD and Cravo, Renata, MD and Balwani, Manisha, MD and Burrow, Thomas Andrew, MD and Martins, Ana Maria, MD and Lukina, Elena, Prof and Rosenbloom, Barry, MD and Ross, Leorah, MD and Angell, Jennifer, MSc and Puga, Ana Cristina, MD
Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9985, pp. 2355 - 2362
Summary Background The mainstay of treatment for Gaucher's disease type 1 is alternate-week infusion of enzyme replacement therapy (ERT). We investigated... 
Internal Medicine | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | MIGLUSTAT | CLINICAL-TRIAL | RECOMMENDATIONS | MAINTENANCE THERAPY | ORAL ELIGLUSTAT | MANIFESTATIONS | PROPORTIONS | CHILDREN | Enzyme Replacement Therapy | Liver - pathology | Administration, Oral | Humans | Organ Size | Male | Gaucher Disease - blood | Enzyme Inhibitors - therapeutic use | Pyrrolidines - therapeutic use | Magnetic Resonance Imaging | Platelet Count | Glucosylceramidase - therapeutic use | Adult | Female | Infusions, Intravenous | Spleen - pathology | Gaucher Disease - drug therapy | Hemoglobins - analysis | Clinical trials | Enzymes | Comparative analysis | Health aspects | Biopharmaceutics | Pain | Drug therapy | Drug dosages | Medical treatment | Metabolic disorders
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4. The porphyrias: advances in diagnosis and treatment
by Balwani, Manisha and Desnick, Robert J
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, 2012, Volume 2012, pp. 19 - 27
The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," "hepatic... 
Heme - metabolism | Porphyrias - genetics | Humans | Metabolism, Inborn Errors | Phlebotomy | Porphyrias - therapy | Stem Cells - cytology | DNA - metabolism | Hematology - trends | Genes, Recessive | Porphyria Cutanea Tarda - genetics | Homozygote | Porphyria, Erythropoietic - diagnosis | Porphyria, Erythropoietic - genetics | Hematology - methods | Models, Biological | Erythrocytes - cytology | 5-Aminolevulinate Synthetase - metabolism | Mutation | Porphyrias - diagnosis | Porphyria Cutanea Tarda - diagnosis | Skin - pathology | Genetic Therapy - methods
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5. Full Text The porphyrias: Advances in diagnosis and treatment
by Balwani, Manisha and Desnick, Robert J
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 23, pp. 4496 - 4504
The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," " hepatic... 
ACUTE INTERMITTENT PORPHYRIA | CONGENITAL ERYTHROPOIETIC PORPHYRIA | LIVER-TRANSPLANTATION | HEME-BIOSYNTHESIS | PROTOPORPHYRIA | GENE | BONE-MARROW-TRANSPLANTATION | MUTATIONS | HEMATOLOGY | HEPATITIS-C | CUTANEA-TARDA | Genetic Predisposition to Disease - genetics | Biosynthetic Pathways - genetics | Porphyrias - genetics | Heme - biosynthesis | Humans | Porphyrias - therapy | Mutation | Porphyrias - diagnosis | Review
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6. Full Text A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
by Burton, Barbara K and Balwani, Manisha and Feillet, François and Barić, Ivo and Burrow, T. Andrew and Camarena Grande, Carmen and Coker, Mahmut and Consuelo-Sánchez, Alejandra and Deegan, Patrick and Di Rocco, Maja and Enns, Gregory M and Erbe, Richard and Ezgu, Fatih and Ficicioglu, Can and Furuya, Katryn N and Kane, John and Laukaitis, Christina and Mengel, Eugen and Neilan, Edward G and Nightingale, Scott and Peters, Heidi and Scarpa, Maurizio and Schwab, K. Otfried and Smolka, Vratislav and Valayannopoulos, Vassili and Wood, Marnie and Goodman, Zachary and Yang, Yijun and Eckert, Stephen and Rojas-Caro, Sandra and Quinn, Anthony G
The New England Journal of Medicine, ISSN 0028-4793, 09/2015, Volume 373, Issue 11, pp. 1010 - 1020
This phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, which causes cirrhosis and severe dyslipidemia,... 
WOLMANS DISEASE | FIBROSIS | MEDICINE, GENERAL & INTERNAL | LIPIDOSIS | THERAPY | FATTY LIVER-DISEASE | PHENOTYPE | ESTER STORAGE DISEASE | ADULT | TRANSPLANTATION | CHILDREN | Dyslipidemias - genetics | Sterol Esterase - pharmacology | Sterol Esterase - therapeutic use | Dyslipidemias - drug therapy | Liver - pathology | Double-Blind Method | Humans | Middle Aged | Child, Preschool | Male | Alanine Transaminase - blood | Sterol Esterase - adverse effects | Wolman Disease - drug therapy | Young Adult | Liver - drug effects | Biopsy | Wolman Disease - blood | Adolescent | Cholesterol, HDL - blood | Adult | Cholesterol, LDL - blood | Female | Aged | Child | Metabolism, Inborn errors of | Enzymes | Care and treatment | Usage | Children | Health aspects | Biotechnology | Alanine | Genetic disorders | Liver diseases | Body weight | Dyslipidemia | Lipids | Triglycerides | Pharmacology | Apolipoproteins | Lipase | Patients | Low density lipoprotein | Cholesterol | Cirrhosis | Acids | Alanine transaminase | Lipid metabolism | Drug therapy | Liver cirrhosis | Age | Life Sciences
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7. Full Text Acute hepatic porphyrias: Recommendations for evaluation and long‐term management
by Balwani, Manisha and Wang, Bruce and Anderson, Karl E and Bloomer, Joseph R and Bissell, D. Montgomery and Bonkovsky, Herbert L and Phillips, John D and Desnick, Robert J and Porphyrias Consortium Rare Dis Cli and Porphyrias Consortium of the Rare Diseases Clinical Research Network
Hepatology, ISSN 0270-9139, 10/2017, Volume 66, Issue 4, pp. 1314 - 1322
The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme... 
ACUTE INTERMITTENT PORPHYRIA | ATTACKS | HEPATOCELLULAR-CARCINOMA | LIVER-TRANSPLANTATION | NORTHERN SWEDEN | PORPHOBILINOGEN DEAMINASE GENE | VARIEGATE PORPHYRIA | FOLLOW-UP | ASYMPTOMATIC CARRIERS | PRECURSOR EXCRETION | GASTROENTEROLOGY & HEPATOLOGY | Porphyrias, Hepatic - diagnosis | Porphyrias, Hepatic - therapy | Porphyrias, Hepatic - metabolism | Disease Management | Humans | Porphyria | Liver | Morbidity | Genetic screening | Heme | Hereditary diseases | Genetic | Metabolic | Neuropathy | Chronic Liver and Kidney disease
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8. Full Text Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study
by Naik, Hetanshi and Shenbagam, Shruti and Go, Allysa Marie and Balwani, Manisha
Molecular Genetics and Metabolism, ISSN 1096-7192, 2019
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses, generally presenting in childhood with severe and painful... 
Focus groups | Psychosocial experiences | EPP | Erythropoietic protoporphyria | Quality of life
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9. Full Text Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease
by Balwani, Manisha and Breen, Catherine and Enns, Gregory M and Deegan, Patrick B and Honzík, Tomas and Jones, Simon and Kane, John P and Malinova, Vera and Sharma, Reena and Stock, Eveline O and Valayannopoulos, Vassili and Wraith, J. Edmond and Burg, Jennifer and Eckert, Stephen and Schneider, Eugene and Quinn, Anthony G
Hepatology, ISSN 0270-9139, 09/2013, Volume 58, Issue 3, pp. 950 - 957
Cholesteryl ester storage disease (CESD), an inherited deficiency of lysosomal acid lipase (LAL), is an underappreciated cause of progressive liver disease... 
LOVASTATIN | THERAPY | EFFICACY | GENE | WOLMANS-DISEASE | RECOMMENDATIONS | BIOTECHNOLOGY PRODUCTS | MODEL | GASTROENTEROLOGY & HEPATOLOGY | DEFICIENCY | HOST ANTIBODIES | Cholesterol Ester Storage Disease - drug therapy | Recombinant Proteins - therapeutic use | Sterol Esterase - therapeutic use | Humans | Liver - metabolism | Middle Aged | Sterol Esterase - pharmacokinetics | Male | Recombinant Proteins - pharmacokinetics | Treatment Outcome | Cholesterol Ester Storage Disease - blood | Recombinant Proteins - adverse effects | Sterol Esterase - adverse effects | Aspartate Aminotransferases - metabolism | Dose-Response Relationship, Drug | Triglycerides - blood | Cholesterol, HDL - blood | Adult | Cholesterol, LDL - blood | Female | Alanine Transaminase - metabolism | Low density lipoprotein | Hepatology | Cholesterol | hepatomegaly | enzyme replacement | fatty liver | dyslipidemia | lysosomal storage
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10. Full Text Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease
by Chen, Brenden and Solis‐Villa, Constanza and Hakenberg, Jörg and Qiao, Wanqiong and Srinivasan, Ramakrishnan R and Yasuda, Makiko and Balwani, Manisha and Doheny, Dana and Peter, Inga and Chen, Rong and Desnick, Robert J
Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1215 - 1222
ABSTRACT Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations that markedly decrease HMBS enzymatic activity. This dominant... 
in silico prediction | disease penetrance | in vitro expression | allele frequency | allele prevalence | MISSENSE VARIANTS | POPULATION | PORPHOBILINOGEN DEAMINASE GENE | STABILITY CHANGES | AMINO-ACID SUBSTITUTIONS | SEQUENCE VARIANTS | CLINICAL CONSEQUENCES | HYDROXYMETHYLBILANE SYNTHASE GENE | GENETICS & HEREDITY | PROTEIN MUTATIONS | WEB SERVER | Genetic Variation | European Continental Ancestry Group - genetics | Computer Simulation | Gene Frequency | Humans | Porphyria, Acute Intermittent - genetics | Female | Male | Penetrance | Porphyria, Acute Intermittent - ethnology | Sequence Analysis, DNA | Porphyria | Career development | Enzymes | Medical research | Algorithms | Gene mutations | Medicine, Experimental | Genes | Mutation
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11. Full Text Afamelanotide for Erythropoietic Protoporphyria
by Langendonk, Janneke G and Balwani, Manisha and Anderson, Karl E and Bonkovsky, Herbert L and Anstey, Alexander V and Bissell, D. Montgomery and Bloomer, Joseph and Edwards, Chris and Neumann, Norbert J and Parker, Charles and Phillips, John D and Lim, Henry W and Hamzavi, Iltefat and Deybach, Jean-Charles and Kauppinen, Raili and Rhodes, Lesley E and Frank, Jorge and Murphy, Gillian M and Karstens, Francois P.J and Sijbrands, Eric J.G and de Rooij, Felix W.M and Lebwohl, Mark and Naik, Hetanshi and Goding, Colin R and Wilson, J.H. Paul and Desnick, Robert J
The New England Journal of Medicine, ISSN 0028-4793, 07/2015, Volume 373, Issue 1, pp. 48 - 59
In patients with erythropoietic protoporphyria, sensitivity to the sun leads to pain and compromised quality of life. In two clinical trials, one in Europe and... 
PHOTOPROTECTION | MEDICINE, GENERAL & INTERNAL | MELANOCYTE-STIMULATING HORMONE | ANALOG | METABOLISM | PHOTOSENSITIVITY | PORPHYRIAS | LIVER-DISEASE | MELANIN | Protoporphyria, Erythropoietic - drug therapy | Double-Blind Method | Pain - prevention & control | Humans | Middle Aged | Drug Implants | alpha-MSH - adverse effects | alpha-MSH - therapeutic use | Sunlight - adverse effects | Protoporphyria, Erythropoietic - complications | Pain - etiology | Adult | alpha-MSH - analogs & derivatives | Prevention | Care and treatment | Usage | Pain | Clinical trials | Management | Erythrohepatic porphyria | Quality of life | Ultraviolet radiation | Free radicals | Medical treatment | Light | Phototoxicity | Hormones | Sun | Metabolic disorders | Erythropoietic protoporphyria
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12. Full Text Diagnostic Delay in Erythropoietic Protoporphyria
by Lala, Sajel M and Naik, Hetanshi and Balwani, Manisha
The Journal of Pediatrics, ISSN 0022-3476, 11/2018, Volume 202, pp. 320 - 323.e2
Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack... 
photodermatoses | porphyria | phototoxicity | PEDIATRICS | AFAMELANOTIDE | LIVER | CIMETIDINE | Severity of Illness Index | Recurrence | Diagnosis, Differential | Prognosis | Risk Assessment | Humans | Child, Preschool | Male | Protoporphyria, Erythropoietic - therapy | Delayed Diagnosis | Photosensitivity Disorders - diagnosis | Photosensitivity Disorders - therapy | Sunlight - adverse effects | Hypersensitivity - diagnosis | Female | Protective Clothing | Protoporphyria, Erythropoietic - diagnosis | Medical colleges
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13. Full Text Characterization of N409H/R535H (N370S/R496H) genotype in type 1 Gaucher disease
by Zeid, Natasha and Stauffer, Chanan and Yang, Amy and Balwani, Manisha
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S152 - S152
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14. Full Text Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria
by Sardh, Eliane and Harper, Pauline and Balwani, Manisha and Stein, Penelope and Rees, David and Bissell, D. Montgomery and Desnick, Robert and Parker, Charles and Phillips, John and Bonkovsky, Herbert L and Vassiliou, Daphne and Penz, Craig and Chan-Daniels, Amy and He, Qiuling and Querbes, William and Fitzgerald, Kevin and Kim, Jae B and Garg, Pushkal and Vaishnaw, Akshay and Simon, Amy R and Anderson, Karl E
The New England Journal of Medicine, ISSN 0028-4793, 02/2019, Volume 380, Issue 6, pp. 549 - 558
Acute intermittent porphyria results in excess activity of ALA synthase and overproduction of neurotoxic metabolites that cause attacks of severe abdominal... 
GENOTYPE-PHENOTYPE CORRELATION | BIOCHEMICAL CHARACTERISTICS | MEDICINE, GENERAL & INTERNAL | ACUTE ATTACKS | LIVER-TRANSPLANTATION | GENE | DELTA-AMINOLEVULINIC-ACID | RECOMMENDATIONS | PORPHOBILINOGEN | PREVALENCE | CLINICAL MANAGEMENT | Porphobilinogen - blood | Drug Administration Schedule | Humans | Liver - metabolism | Middle Aged | Male | RNA, Messenger - urine | 5-Aminolevulinate Synthetase - antagonists & inhibitors | Molecular Targeted Therapy | RNA, Messenger - metabolism | Dose-Response Relationship, Drug | Porphyria, Acute Intermittent - drug therapy | 5-Aminolevulinate Synthetase - genetics | Injections, Subcutaneous | Amides - adverse effects | Adult | Female | 5-Aminolevulinate Synthetase - metabolism | RNAi Therapeutics | Amides - administration & dosage | Porphyria | Care and treatment | Analysis | Clinical trials | Genetic aspects | Research | Gene expression | RNA-mediated interference | Body weight | Diarrhea | Rhinopharyngitis | Aminolevulinic acid | Patients | Intermediates | Hereditary diseases | Neurotoxicity | Pain | Heme | Mutation | Pharmaceuticals | Index Medicus | Abridged Index Medicus
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15. Full Text Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria
by Chen, Brenden and Solis-Villa, Constanza and Erwin, Angelika L and Balwani, Manisha and Nazrenko, Irina and Phillips, John D and Desnick, Robert J and Yasuda, Makiko
Journal of inherited metabolic disease, ISSN 0141-8955, 03/2018, pp. 1 - 9
Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by... 
Porphyria | Transcription | Insertion | Gene deletion | Hereditary diseases | Hydroxymethylbilane synthase | Missense mutation | Genetic counseling | Clonal deletion | Protein folding | Heme | Mutation | Gene mapping | Dimerization | Crystal structure
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16. Full Text Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
by Mistry, Pramod K and Lukina, Elena and Ben Turkia, Hadhami and Shankar, Suma P and Baris, Hagit and Ghosn, Marwan and Mehta, Atul and Packman, Seymour and Pastores, Gregory and Petakov, Milan and Assouline, Sarit and Balwani, Manisha and Danda, Sumita and Hadjiev, Evgueniy and Ortega, Andres and Gaemers, Sebastiaan J. M and Tayag, Regina and Peterschmitt, M. Judith
American Journal of Hematology, ISSN 0361-8609, 11/2017, Volume 92, Issue 11, pp. 1170 - 1176
Eliglustat, an oral substrate reduction therapy, is a first‐line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or... 
GLUCOSYLSPHINGOSINE | TARTRATE | HEMATOLOGY | INFLAMMATION | Enzyme Inhibitors - adverse effects | Enzyme Replacement Therapy | Liver - pathology | Follow-Up Studies | Humans | Organ Size | Pyrrolidines - administration & dosage | Pyrrolidines - adverse effects | Treatment Outcome | Enzyme Inhibitors - therapeutic use | Glucosylceramidase - antagonists & inhibitors | Pyrrolidines - therapeutic use | Enzyme Inhibitors - administration & dosage | Spleen - pathology | Gaucher Disease - diagnosis | Gaucher Disease - drug therapy | Gaucher Disease - enzymology | Index Medicus
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