Phosphofructokinase deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Phosphofructokinase deficiency" in English language version.

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18nih.gov

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14doi.org

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Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr. Mol. Med. 2 (2): 197–212. doi:10.2174/1566524024605734. PMID 11949936. Archived from the original on April 14, 2013.

doi.org

Tarui S, OKuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M (1965). "Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis". Biochem. Biophys. Res. Commun. 19 (4): 517–523. doi:10.1016/0006-291X(65)90156-7. PMID 14339001.
Kloos, M; Straeter, N (2014). "4OMT". Acta Crystallogr F. 70: 578–582. doi:10.2210/pdb4omt/pdb.
Stedman, H.; Stedman, H; Rajpurohit, Y; Henthorn, PS; Wolfe, JH; Patterson, DF; Giger, U (1996). "Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency". Journal of Biological Chemistry. 271 (33): 20070–20074. doi:10.1074/jbc.271.33.20070. PMID 8702726.
Wu, Pei-Ling; Yang, Yung-Ning; Tey, Shu-Leei; Yang, San-Nan; Lin, Chien-Seng (25 June 2015). "Infantile form of muscle phosphofructokinase deficiency in a premature neonate". Pediatrics International. 57 (4): 746–749. doi:10.1111/ped.12616. PMID 26108272. S2CID 13064914.
Inal Gultekin, G; Raj, K; Lehman, S; Hillstrom, A; Giger, U (December 2012). "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog". Molecular and Cellular Probes. 26 (6): 243–247. doi:10.1016/j.mcp.2012.02.004. PMC 3485442. PMID 22446493.
Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M'hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio (2012). "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)". Neuromuscular Disorders. 22 (4): 325–330. doi:10.1016/j.nmd.2011.10.022. PMID 22133655. S2CID 20133199.
Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr. Mol. Med. 2 (2): 197–212. doi:10.2174/1566524024605734. PMID 11949936. Archived from the original on April 14, 2013.
Layzer, Robert; Rowland, Lewis; Ranney, Helen (November 1967). "Muscle Phosphofructokinase Deficiency". Journal of the American Medical Association. 17 (5): 512–523. doi:10.1001/archneur.1967.00470290066009. PMID 4228297.
Raben, N; Sherman, JB (1995). "Mutations in muscle phosphofructokinase gene". Human Mutation. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225. S2CID 46649815.
Vora, Shobhana; Giger, Urs; Turchen, Steven; Harvey, John (December 1985). "Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII". Proceedings of the National Academy of Sciences of the United States of America. 82 (23): 8109–8113. Bibcode:1985PNAS...82.8109V. doi:10.1073/pnas.82.23.8109. PMC 391452. PMID 2933748.
Harvey, J.W.; Smith, J.E. (June 1994). "Haematology and Clinical Chemistry of English Springer Spaniel Dogs with Phosphofructokinase Deficiency". Comparative Haematology International. 4 (2): 70–75. doi:10.1007/BF00368272. S2CID 25755199.
Malfatti, Edoardo; Birouk, Nazha; Romero, Norma B.; Piraud, Monique; Petit, François M.; Hogrel, Jean-Yves; Laforêt, Pascal (2012-05-15). "Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency". Journal of the Neurological Sciences. 316 (1–2): 173–177. doi:10.1016/j.jns.2012.01.027. PMID 22364848. S2CID 19654051.
Swoboda, Kathryn; Specht, Linda; Jones, Royden; Shapiro, Frederic; DiMauro, Salvatore; Korson, Mark (December 1997). "Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet". The Journal of Pediatrics. 131 (6): 932–934. doi:10.1016/s0022-3476(97)70048-9. PMID 9427905.
Gerber, Karen; Harvey, John; D'Agorne, Sara; Wood, Jonathan; Giger, Urs (March 2009). "Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets". Veterinary Clinical Pathology. 38 (1): 46–51. doi:10.1111/j.1939-165X.2008.00089.x. PMC 2692053. PMID 19228357.

essfta.org

Giger, U; Kimmel, A; Overlery, D; Schwartz, B; Smith, B; Rajpurohit, Y. "Frequency of Phosphofructokinase (PFK) Deficiency in English Springer Spaniels: A Longitudinal and Randomized Study". English Springer Spaniel Field Trial Association.

harvard.edu

ui.adsabs.harvard.edu

Vora, Shobhana; Giger, Urs; Turchen, Steven; Harvey, John (December 1985). "Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII". Proceedings of the National Academy of Sciences of the United States of America. 82 (23): 8109–8113. Bibcode:1985PNAS...82.8109V. doi:10.1073/pnas.82.23.8109. PMC 391452. PMID 2933748.

mountsinai.org

Kassir, Kari. "Glycogen Storage Diseases (Glycogenoses; GSD)". Mount Sinai Hospital.

nih.gov

pubmed.ncbi.nlm.nih.gov

Tarui S, OKuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M (1965). "Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis". Biochem. Biophys. Res. Commun. 19 (4): 517–523. doi:10.1016/0006-291X(65)90156-7. PMID 14339001.
Stedman, H.; Stedman, H; Rajpurohit, Y; Henthorn, PS; Wolfe, JH; Patterson, DF; Giger, U (1996). "Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency". Journal of Biological Chemistry. 271 (33): 20070–20074. doi:10.1074/jbc.271.33.20070. PMID 8702726.
Wu, Pei-Ling; Yang, Yung-Ning; Tey, Shu-Leei; Yang, San-Nan; Lin, Chien-Seng (25 June 2015). "Infantile form of muscle phosphofructokinase deficiency in a premature neonate". Pediatrics International. 57 (4): 746–749. doi:10.1111/ped.12616. PMID 26108272. S2CID 13064914.
Toscano A, Musumeci O (October 2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol. 26 (2): 105–107. PMC 2949577. PMID 18421897.
Inal Gultekin, G; Raj, K; Lehman, S; Hillstrom, A; Giger, U (December 2012). "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog". Molecular and Cellular Probes. 26 (6): 243–247. doi:10.1016/j.mcp.2012.02.004. PMC 3485442. PMID 22446493.
Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M'hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio (2012). "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)". Neuromuscular Disorders. 22 (4): 325–330. doi:10.1016/j.nmd.2011.10.022. PMID 22133655. S2CID 20133199.
Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr. Mol. Med. 2 (2): 197–212. doi:10.2174/1566524024605734. PMID 11949936. Archived from the original on April 14, 2013.
Layzer, Robert; Rowland, Lewis; Ranney, Helen (November 1967). "Muscle Phosphofructokinase Deficiency". Journal of the American Medical Association. 17 (5): 512–523. doi:10.1001/archneur.1967.00470290066009. PMID 4228297.
Raben, N; Sherman, JB (1995). "Mutations in muscle phosphofructokinase gene". Human Mutation. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225. S2CID 46649815.
Vora, Shobhana; Giger, Urs; Turchen, Steven; Harvey, John (December 1985). "Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII". Proceedings of the National Academy of Sciences of the United States of America. 82 (23): 8109–8113. Bibcode:1985PNAS...82.8109V. doi:10.1073/pnas.82.23.8109. PMC 391452. PMID 2933748.
Malfatti, Edoardo; Birouk, Nazha; Romero, Norma B.; Piraud, Monique; Petit, François M.; Hogrel, Jean-Yves; Laforêt, Pascal (2012-05-15). "Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency". Journal of the Neurological Sciences. 316 (1–2): 173–177. doi:10.1016/j.jns.2012.01.027. PMID 22364848. S2CID 19654051.
Swoboda, Kathryn; Specht, Linda; Jones, Royden; Shapiro, Frederic; DiMauro, Salvatore; Korson, Mark (December 1997). "Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet". The Journal of Pediatrics. 131 (6): 932–934. doi:10.1016/s0022-3476(97)70048-9. PMID 9427905.
Gerber, Karen; Harvey, John; D'Agorne, Sara; Wood, Jonathan; Giger, Urs (March 2009). "Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets". Veterinary Clinical Pathology. 38 (1): 46–51. doi:10.1111/j.1939-165X.2008.00089.x. PMC 2692053. PMID 19228357.

ncbi.nlm.nih.gov

Toscano A, Musumeci O (October 2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol. 26 (2): 105–107. PMC 2949577. PMID 18421897.
Inal Gultekin, G; Raj, K; Lehman, S; Hillstrom, A; Giger, U (December 2012). "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog". Molecular and Cellular Probes. 26 (6): 243–247. doi:10.1016/j.mcp.2012.02.004. PMC 3485442. PMID 22446493.
Vora, Shobhana; Giger, Urs; Turchen, Steven; Harvey, John (December 1985). "Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII". Proceedings of the National Academy of Sciences of the United States of America. 82 (23): 8109–8113. Bibcode:1985PNAS...82.8109V. doi:10.1073/pnas.82.23.8109. PMC 391452. PMID 2933748.
Gerber, Karen; Harvey, John; D'Agorne, Sara; Wood, Jonathan; Giger, Urs (March 2009). "Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets". Veterinary Clinical Pathology. 38 (1): 46–51. doi:10.1111/j.1939-165X.2008.00089.x. PMC 2692053. PMID 19228357.

ghr.nlm.nih.gov

"Glycogen Storage Disease Type VII". Genetics Home Reference. US National Library of Medicine.

rarediseases.org

"Glycogen Storage Disease Type VII". Rare Disease Database. National Organization for Rare Disorders.

rcsb.org

Kloos, M; Straeter, N (2014). "4OMT". Acta Crystallogr F. 70: 578–582. doi:10.2210/pdb4omt/pdb.

semanticscholar.org

api.semanticscholar.org

Wu, Pei-Ling; Yang, Yung-Ning; Tey, Shu-Leei; Yang, San-Nan; Lin, Chien-Seng (25 June 2015). "Infantile form of muscle phosphofructokinase deficiency in a premature neonate". Pediatrics International. 57 (4): 746–749. doi:10.1111/ped.12616. PMID 26108272. S2CID 13064914.
Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M'hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio (2012). "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)". Neuromuscular Disorders. 22 (4): 325–330. doi:10.1016/j.nmd.2011.10.022. PMID 22133655. S2CID 20133199.
Raben, N; Sherman, JB (1995). "Mutations in muscle phosphofructokinase gene". Human Mutation. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225. S2CID 46649815.
Harvey, J.W.; Smith, J.E. (June 1994). "Haematology and Clinical Chemistry of English Springer Spaniel Dogs with Phosphofructokinase Deficiency". Comparative Haematology International. 4 (2): 70–75. doi:10.1007/BF00368272. S2CID 25755199.
Malfatti, Edoardo; Birouk, Nazha; Romero, Norma B.; Piraud, Monique; Petit, François M.; Hogrel, Jean-Yves; Laforêt, Pascal (2012-05-15). "Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency". Journal of the Neurological Sciences. 316 (1–2): 173–177. doi:10.1016/j.jns.2012.01.027. PMID 22364848. S2CID 19654051.

socialstyrelsen.se

Ronquist, Gunnar. "Tarui disease". The Swedish Information Center for Rare Diseases. University of Gothenburg.

upei.ca

ic.upei.ca

"Phosphofructokinase (PFK) deficiency". Canine Inherited Disorders Database. University of Prince Edward Island.

upenn.edu

research.vet.upenn.edu

"Phosphofructokinase Deficiency (PFK)". PennGen Laboratories. University of Pennsylvania.

whonamedit.com

synd/3022 at Whonamedit?

wiley.com

onlinelibrary.wiley.com

Al-Samkari, Hanny (July 23, 2024). "Mitapivat for phosphofructokinase deficiency". American Journal of Hematology. 99 (10).

zenodo.org

Raben, N; Sherman, JB (1995). "Mutations in muscle phosphofructokinase gene". Human Mutation. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225. S2CID 46649815.