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PubMed contains access to extensive medical literature on an extensive range of topics. You can search the medical literature online at the National Library of Medicine's PubMed Web site at www.pubmed.gov.

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Here is a short bibliography of a few examples of published articles about certain rare diseases. This list is not a complete list of available published information about these topics.

Fabry

Desnick RJ, Astrin KH, Bishop DF. Fabry disease: molecular genetics of the inherited nephropathy. Adv Nephrol Necker Hosp. 1989;18:113-27. [PubMed ID 2564247]
Grünfeld JP, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis. 2001;24(suppl 2):71-74. [PubMed ID 11758682]
Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001;24(suppl 2):75-83. [PubMed ID 11758683]

HAE

Allergy Asthma Proc. 2010 Sep;31(5):407-14. The humanistic burden of hereditary angioedema: Impact on health-related quality of life, productivity, and depression. Lumry WR, Castaldo AJ, Vernon MK, Blaustein MB, Wilson DA, Horn PT.

MLD

Gieselmann V, Polten A, Kreysing J, von Figura K. Molecular genetics of metachromatic leukodystrophy. J Inherit Metab Dis. 1994;17(4):500-509. [PubMed ID 7967499]
Hyde TM, Ziegler JC, Weinberger DR. Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis. Arch Neurol. 1992;49(4):401-406. [PubMed ID 1532712]

Sanfilippo Syndrome

Fraser J, Gason AA, Wraith JE, Delatycki MB. Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child. 2005;90(12):1239-1242. [PubMed ID 16301549]
Kara S, Sherr EH, Barkovich AJ. Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatr Neurol. 2008;38(5):363-366. [PubMed ID 18410855]
Meyer A, Kossow K, Gal A, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics. 2007;120(5):e1255-e1261. [PubMed ID 17938166]

Gaucher

Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008;29(5):567-583. [PubMed ID 18338393]

Hunter Syndrome

Hunter C. A rare disease in two brothers. Proc R Soc Med. 1917;104-116. [Note: Available at PubMed Central at www.pubmedcentral.nih.gov]
Yoskovitch A, Tewfik TL, Brouillette RT, Schloss MD, Der Kaloustian VM. Acute airway obstruction in Hunter syndrome. Int J Pediatr Otorhinolaryngol. 1998;44(3):273-278. [PubMed ID 9780074]