Infantile neuronal ceroid lipofuscinosis

Alternative name(s) : Ceroid lipofuscinosis, juvenile neuronal, with granular osmiophilic deposits, CLN1 gene product deficiency, vJNCL/GROD, JNCL, INCL, Palmitoyl-protein thioesterase 1 deficiency, PPT1 deficiency, Neuronal ceroid lipofuscinosis, infantile finnish type; NCL, Santavuori disease, Santavuori-Haltia disease, Ceroid lipofuscinosis, neuronal 1, adult

Gene_locus : 1

Mutation : 73

OMIM : 600722 , 256730

Comment
Mutations in at least 13 different genes (called CLNs) underlie various forms of neuronal ceroid lipofuscinoses (NCLs), a group of the most common neurodegenerative lysosomal storage diseases. The CLN1 gene encodes palmitoyl-protein thioesterases-1 (PPT1). Mutations cause infantile NCL (INCL). Goebel (1995) provided a comprehensive review of the neuronal ceroid lipofuscinoses, possibly the most common group of neurodegenerative diseases in children. They are characterized by intralysosomal accumulations of lipopigments in either granular, curvilinear, or fingerprint patterns. These include infantile Santavuori-Haltia disease, late infantile Jansky-Bielschowsky disease (204500), late infantile form (256731), juvenile Vogt-Spielmeyer disease (or Batten disease; 204200), and Kufs disease (204300), as well as approximately a dozen atypical variants. The clinical course is that of progressive dementia, seizures, and progressive visual failure. Using 'Batten disease' as a generic collective designation for the neuronal ceroid lipofuscinoses, Mole (1999) stated that 8 genes causing the different varieties had been identified. She posed the question of whether other genes causing these diseases remained to be identified. The genes CLN1 (PPT1) and CLN2 (204500), which are mutant in the infantile and late-infantile forms of neuronal ceroid lipofuscinosis, respectively, encode lysosomal enzymes; the CLN3 (607042) and CLN5 (256731) genes, which are mutant in the juvenile form (Batten disease; 204200) and Finnish-variant neuronal ceroid lipofuscinosis (256731), respectively, encode membrane-spanning proteins. Zhong et al. (2000) addressed the question of why deficiencies of lysosomal enzymes and membrane-spanning proteins produce similar clinical phenotypes and pathologic changes. They hypothesized that CLN-encoded proteins may comprise a functional pathogenic pathway in which protein associations play important roles. To test this hypothesis, they studied protein-protein interactions among the CLN1-, CLN2-, and CLN3-encoded proteins using a yeast 2-hybrid system. Results provided no evidence that CLN-encoded proteins interact with each other. NCL Mutation and Patient Database NCL

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Gene_locus related to this paper: human-PPT1

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Gene_locus related to this paper: human-PPT1

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Gene_locus related to this paper: human-PPT1

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Gene_locus related to this paper: human-PPT1

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Gene_locus related to this paper: human-PPT1

Title : Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease - Dawson_2010_Biochem.Biophys.Res.Commun_395_66
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Gene_locus related to this paper: human-PPT1

Title : Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations - Simonati_2009_Pediatr.Neurol_40_271
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Gene_locus related to this paper: human-PPT1

Title : An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients - Kohan_2009_Clin.Genet_76_372
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Gene_locus related to this paper: human-PPT1

Title : Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 -
Author(s) : Ramadan H , Al-Din AS , Ismail A , Balen F , Varma A , Twomey A , Watts R , Jackson M , Anderson G , Green E , Mole SE
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Gene_locus related to this paper: human-PPT1

Title : Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency - Kalviainen_2007_Eur.J.Neurol_14_369
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Gene_locus related to this paper: human-PPT1

Title : [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis] - Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496
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Gene_locus related to this paper: human-PPT1

Title : Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis - Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154
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Gene_locus related to this paper: human-PPT1

Title : [From gene to disease\; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis] - Taschner_2005_Ned.Tijdschr.Geneeskd_149_300
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Gene_locus related to this paper: human-PPT1

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Gene_locus related to this paper: human-PPT1

Title : High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3 - Sitter_2004_J.Neurosci.Res_77_762
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Title : Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population - Teixeira_2003_J.Neurol_250_661
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Gene_locus related to this paper: human-PPT1

Title : A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis - Mazzei_2002_J.Neurol_249_1398
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Abstract :
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Gene_locus related to this paper: human-PPT1

Title : New mutations in the neuronal ceroid lipofuscinosis genes - Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7
Author(s) : Mole SE , Zhong NA , Sarpong A , Logan WP , Hofmann S , Yi W , Franken PF , van Diggelen OP , Breuning MH , Moroziewicz D , Ju W , Salonen T , Holmberg V , Jarvela I , Taschner PE
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Abstract :
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Gene_locus related to this paper: human-PPT1

Title : Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease - van Diggelen_2001_Ann.Neurol_50_269
Author(s) : van Diggelen OP , Thobois S , Tilikete C , Zabot MT , Keulemans JL , van Bunderen PA , Taschner PE , Losekoot M , Voznyi YV
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Abstract :
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PubMedID: 11506414
Gene_locus related to this paper: human-PPT1

Title : Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood - Zhang_2001_Nat.Med_7_478
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Gene_locus related to this paper: human-PPT1

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Abstract :
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PubMedID: 11440996
Gene_locus related to this paper: human-PPT1

Title : Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice - Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566
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Abstract :
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Gene_locus related to this paper: mouse-ppt , mouse-PPT2 , human-PPT1

Title : Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL\;CLN1) - Salonen_2000_Hum.Mutat_15_273
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Abstract :
PubMedSearch : Salonen_2000_Hum.Mutat_15_273
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Title : The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis - Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573
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Abstract :
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Gene_locus related to this paper: bovin-ppt , human-PPT1

Title : Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis - Waliany_2000_Hum.Mutat_15_206
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Abstract :
PubMedSearch : Waliany_2000_Hum.Mutat_15_206
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Title : Expression of palmitoyl protein thioesterase in neurons. -
Author(s) : Heinonen O , Kyttala A , Lehmus E , Paunio T , Peltonen L , Jalanko A
Ref : Molec Genet Metab , 69 :123 , 2000
PubMedID:
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Title : CLN-encoded proteins do not interact with each other - Zhong_2000_Neurogenetics_3_41
Author(s) : Zhong NA , Moroziewicz DN , Ju W , Wisniewski KE , Jurkiewicz A , Brown WT
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Abstract :
PubMedSearch : Zhong_2000_Neurogenetics_3_41
PubMedID: 11085596
Gene_locus related to this paper: human-PPT1

Title : Batten's disease: eight genes and still counting? -
Author(s) : Mole SE
Ref : Lancet , 354 :443 , 1999
PubMedID: 10465165
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Title : Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5 - Mole_1999_Hum.Mutat_14_199
Author(s) : Mole SE , Mitchison HM , Munroe PB
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Abstract :
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PubMedID: 10477428
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Title : A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants - Voznyi_1999_J.Med.Genet_36_471
Author(s) : Voznyi YV , Keulemans JL , Mancini GM , Catsman-Berrevoets CE , Young E , Winchester B , Kleijer WJ , van Diggelen OP
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Abstract :
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PubMedID: 10874636
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Title : Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands - Taschner_1999_Mol.Genet.Metab_66_339
Author(s) : Taschner PE , Franken PF , van Berkel L , Breuning MH
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Abstract :
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Title : First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559
Author(s) : de Vries BB , Kleijer WJ , Keulemans JL , Voznyi YV , Franken PF , Eurlings MC , Galjaard RJ , Losekoot M , Catsman-Berrevoets CE , Breuning MH , Taschner PE , van Diggelen OP
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Abstract :
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PubMedID: 10416973
Gene_locus related to this paper: human-PPT1

Title : A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient - Santorelli_1998_Biochem.Biophys.Res.Commun_245_519
Author(s) : Santorelli FM , Bertini E , Petruzzella V , Di Capua M , Calvieri S , Gasparini P , Zeviani M
Ref : Biochemical & Biophysical Research Communications , 245 :519 , 1998
Abstract :
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PubMedID: 9571187
Gene_locus related to this paper: human-PPT1

Title : Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland -
Author(s) : Munroe PB , Greene ND , Leung KY , Mole SE , Gardiner RM , Mitchison HM , Stephenson JB , Crow YJ
Ref : Journal of Medical Genetics , 35 :790 , 1998
PubMedID: 9733046
Gene_locus related to this paper: human-PPT1

Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291
Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM
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Abstract :
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PubMedID: 9425237
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Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361
Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL
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Abstract :
PubMedSearch : Das_1998_J.Clin.Invest_102_361
PubMedID: 9664077
Gene_locus related to this paper: human-PPT1

Title : cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis - Schriner_1996_Genomics_34_317
Author(s) : Schriner JE , Yi W , Hofmann SL
Ref : Genomics , 34 :317 , 1996
Abstract :
PubMedSearch : Schriner_1996_Genomics_34_317
PubMedID: 8786130
Gene_locus related to this paper: human-PPT1

Title : MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients - Vanhanen_1995_J.Child.Neurol_10_444
Author(s) : Vanhanen SL , Raininko R , Autti T , Santavuori P
Ref : Journal of Child Neurology , 10 :444 , 1995
Abstract :
PubMedSearch : Vanhanen_1995_J.Child.Neurol_10_444
PubMedID: 8576553
Gene_locus related to this paper: human-PPT1

Title : The neuronal ceroid-lipofuscinoses - Goebel_1995_J.Child.Neurol_10_424
Author(s) : Goebel HH
Ref : Journal of Child Neurology , 10 :424 , 1995
Abstract :
PubMedSearch : Goebel_1995_J.Child.Neurol_10_424
PubMedID: 8576551
Gene_locus related to this paper: human-PPT1

Title : Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus - Hellsten_1995_Genomics_25_404
Author(s) : Hellsten E , Vesa J , Heiskanen M , Makela TP , Jarvela I , Cowell JK , Mead S , Alitalo K , Palotie A , Peltonen L
Ref : Genomics , 25 :404 , 1995
Abstract :
PubMedSearch : Hellsten_1995_Genomics_25_404
PubMedID: 7789974
Gene_locus related to this paper: human-PPT1

Title : Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis - Vesa_1995_Nature_376_584
Author(s) : Vesa J , Hellsten E , Verkruyse LA , Camp LA , Rapola J , Santavuori P , Hofmann SL , Peltonen L
Ref : Nature , 376 :584 , 1995
Abstract :
PubMedSearch : Vesa_1995_Nature_376_584
PubMedID: 7637805
Gene_locus related to this paper: human-PPT1

Title : Molecular cloning and expression of palmitoyl-protein thioesterase - Camp_1994_J.Biol.Chem_269_23212
Author(s) : Camp LA , Verkruyse LA , Afendis SJ , Slaughter CA , Hofmann SL
Ref : Journal of Biological Chemistry , 269 :23212 , 1994
Abstract :
PubMedSearch : Camp_1994_J.Biol.Chem_269_23212
PubMedID: 7916016
Gene_locus related to this paper: bovin-ppt , ratno-ppt , human-PPT1

Title : Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis - Hellsten_1993_Genomics_16_720
Author(s) : Hellsten E , Vesa J , Speer MC , Makela TP , Jarvela I , Alitalo K , Ott J , Peltonen L
Ref : Genomics , 16 :720 , 1993
Abstract :
PubMedSearch : Hellsten_1993_Genomics_16_720
PubMedID: 8325646
Gene_locus related to this paper: human-PPT1

Title : Assignment of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) to the short arm of chromosome 1 (Abstract) -
Author(s) : Jarvela I , Santavuori P , Vesa J , Rapola J , Palotie A , Peltonen L
Ref : Cytogenet Cell Genet , 58 :1856 , 1991
PubMedID:
Gene_locus related to this paper: human-PPT1

Title : Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus - Jarvela_1991_Genomics_10_333
Author(s) : Jarvela I
Ref : Genomics , 10 :333 , 1991
Abstract :
PubMedSearch : Jarvela_1991_Genomics_10_333
PubMedID: 2071142
Gene_locus related to this paper: human-PPT1

Title : Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1 - Jarvela_1991_Genomics_9_170
Author(s) : Jarvela I , Schleutker J , Haataja L , Santavuori P , Puhakka L , Manninen T , Palotie A , Sandkuijl LA , Renlund M , White R , et al.
Ref : Genomics , 9 :170 , 1991
Abstract :
PubMedSearch : Jarvela_1991_Genomics_9_170
PubMedID: 1672288
Gene_locus related to this paper: human-PPT1

Title : Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses - Jokiaho_1990_Genomics_8_391
Author(s) : Jokiaho I , Puhakka L , Santavuori P , Manninen T , Nyman K , Peltonen L
Ref : Genomics , 8 :391 , 1990
Abstract :
PubMedSearch : Jokiaho_1990_Genomics_8_391
PubMedID: 2249855
Gene_locus related to this paper: human-PPT1

Title : Santavuori disease: diagnosis by leukocyte ultrastructure - Baumann_1982_Neurology_32_1277
Author(s) : Baumann RJ , Markesbery WR
Ref : Neurology , 32 :1277 , 1982
Abstract :
PubMedSearch : Baumann_1982_Neurology_32_1277
PubMedID: 6890163
Gene_locus related to this paper: human-PPT1

Title : Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis - Becker_1979_Eur.J.Pediatr_132_197
Author(s) : Becker K , Goebel HH , Svennerholm L , Wendel U , Bremer HJ
Ref : Eur J Pediatr , 132 :197 , 1979
Abstract :
PubMedSearch : Becker_1979_Eur.J.Pediatr_132_197
PubMedID: 510322
Gene_locus related to this paper: human-PPT1

Title : Polyunsaturated fatty acid lipidosis infantile form of so-called neuronal ceroidlipofuscinosis -
Author(s) : Hagberg B , Haltia M , Sourander P , Svennerholm L , Eeg-Olofsson O
Ref : Acta Paediatr Scand , 63 :753 , 1974
PubMedID: 4415126
Gene_locus related to this paper: human-PPT1

Title : Infantile type of so-called neuronal ceroid-lipofuscinosis -
Author(s) : Santavuori P , Haltia M , Rapola J
Ref : Dev Med Child Neurol , 16 :644 , 1974
PubMedID: 4371326
Gene_locus related to this paper: human-PPT1

Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients -
Author(s) : Santavuori P , Haltia M , Rapola J , Raitta C
Ref : Journal of Neurology Sci , 18 :257 , 1973
PubMedID: 4698309
Gene_locus related to this paper: human-PPT1

Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies -
Author(s) : Haltia M , Rapola J , Santavuori P , Keranen A
Ref : Journal of Neurology Sci , 18 :269 , 1973
PubMedID: 4121459
Gene_locus related to this paper: human-PPT1

Title : Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? -
Author(s) : Zeman W , Dyken P
Ref : Pediatrics , 44 :570 , 1969
PubMedID: 5346636
Gene_locus related to this paper: human-PPT1

Title : Late infantile progressive encephalopathy with disturbed poly-unsaturated fat metabolism -
Author(s) : Hagberg B , Sourander P , Svennerholm L
Ref : Acta Paediatr Scand , 57 :495 , 1968
PubMedID: 5706364
Gene_locus related to this paper: human-PPT1